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Gene: Kcnt1 MGI:1924627

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Gene Summary

Name:
potassium channel, subfamily T, member 1
Synonyms:
Slack,  C030030G16Rik,  slo2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Kcnt1em1(IMPC)Mbp HET   Early adult 0.00
anophthalmia Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
small spleen Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Kcnt1em1(IMPC)Mbp HOM Early adult 6.63×10-07
decreased anxiety-related response Kcnt1em1(IMPC)Mbp HOM Early adult 1.43×10-06
abnormal spleen morphology Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Kcnt1em1(IMPC)Mbp HOM Early adult 1.25×10-10
decreased locomotor activity Kcnt1em1(IMPC)Mbp HOM Early adult 8.24×10-06
abnormal kidney morphology Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Kcnt1em1(IMPC)Mbp HOM Early adult 6.75×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Human diseases caused by Kcnt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kcnt1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seiz... ORPHA:98784
Epilepsy, Nocturnal Frontal Lobe, 5
Cognitive impairment, Focal-onset seizure, Status epilepticus OMIM:615005
Developmental And Epileptic Encephalopathy 14
Status epilepticus, Poor eye contact OMIM:614959

The table below shows human diseases predicted to be associated to Kcnt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure OMIM:616887
Intellectual Developmental Disorder, Autosomal Dominant 2
Seizure OMIM:614113
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Cognitive impairment, Generalized-onset seizure, Psychomotor deterior... ORPHA:65683
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Myoclonus OMIM:616230
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:617600
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Cognitive impairment, Polymicrogyria OMIM:300388
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment, Seizure OMIM:238700
Severe Primary Trimethylaminuria
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... ORPHA:468726
Developmental And Epileptic Encephalopathy 98
Perisylvian polymicrogyria, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,... OMIM:619605
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Mental de... ORPHA:2382
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Abnormal social behavior, Hype... ORPHA:101039
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Cognitive impairment, Atonic seizure, Focal hemiclonic seizure, Myoclon... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Mental deterioration, Myoclonus, Attention deficit hyperactivity ... OMIM:619191
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Mental deterioration, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention d... OMIM:245570
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Polymicrogyria, Pachygyria OMIM:614115
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Mental deterioration, Febrile... ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Familial Focal Epilepsy With Variable Foci
Cognitive impairment, Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awar... ORPHA:98820
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure, Abnormal social behavior ORPHA:436151
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure OMIM:300271
Myoclonic Epilepsy Of Unverricht And Lundborg
Dementia, Mental deterioration, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... OMIM:254800
Landau-Kleffner Syndrome
Attention deficit hyperactivity disorder, Atypical absence seizure, Memory impairment, Hyperactiv... ORPHA:98818
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Mental deterioration OMIM:104290
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:619639
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Seizure OMIM:617796
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Intellectual Developmental Disorder, X-Linked 1
No social interaction, Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Unilateral Focal Polymicrogyria
Memory impairment, Abnormal nonverbal communicative behavior, Bilateral tonic-clonic seizure with... ORPHA:268947
Lissencephaly 10
Agyria, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-o... OMIM:618873
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure OMIM:615493
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Poly... OMIM:604317
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Simplified gyral pattern, Delayed social development, Bilateral tonic-clonic... OMIM:619301
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619157
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... OMIM:617924
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure ORPHA:356996
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Generalized Epilepsy With Febrile Seizures-Plus
Cognitive impairment, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, F... ORPHA:36387
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized myoclonic seizure... OMIM:611726
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Dementia, Focal myoclonic seizure, Febrile seiz... ORPHA:263516
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Simplified gyral pattern, Delayed social development, Bilateral tonic-clonic... OMIM:619302
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Seizure OMIM:617113
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Seizure OMIM:616657
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Inap... ORPHA:412066
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Perisylvian polymicrogyria, Focal-onse... OMIM:619606
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic ... ORPHA:101071
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus OMIM:613608
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure ORPHA:101685
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, S... OMIM:616645
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Pachygyria, Seizure ORPHA:329329
Foxg1 Syndrome
Impaired social interactions, Cognitive impairment, Focal-onset seizure, Poor eye contact, Pachyg... ORPHA:561854
Rasmussen Subacute Encephalitis
Attention deficit hyperactivity disorder, Cognitive impairment, Memory impairment, Focal sensory ... ORPHA:1929
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity, Seizure OMIM:613402
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Subcortical heterotopia, Focal-onset seizure, Polymicrogyria OMIM:614483
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure ORPHA:208441
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... ORPHA:178469
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Lissencephaly, Pachygyria, Polymicrogyria, Bilateral tonic-clonic seizure with generalized onset,... OMIM:618730
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Focal impaired awareness seizure, Seizure, St... ORPHA:330050
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure ORPHA:163721
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Atonic seizure, Generalized myoclonic s... ORPHA:2590
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-mot... OMIM:271980
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Status epilepticus, Generalized myoclonic-atoni... OMIM:619701
New-Onset Refractory Status Epilepticus
Cognitive impairment, Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:363558
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure, Infantile spasms ORPHA:250972
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Mental deterioration, Myoclonus, Seizure OMIM:615924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Dementia, Motor deterioration, Mental deterioration, Focal-on... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Seizure, Febrile seizure (within the age... OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... ORPHA:208447
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal impaired awareness seizure, S... ORPHA:382
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619616
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms OMIM:619031
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Frontotemporal dementia, Mental deterioration, Memory impairment ORPHA:275864
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Renal hypoplasia, Abnormal spleen morphology, Microphthalmia, Ann... ORPHA:2470
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Myoclonus OMIM:607876
Immunodeficiency 8
Hyperactivity OMIM:615401
Aminoacylase 1 Deficiency
Hyperactivity, Seizure OMIM:609924
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Generalized myoclonic seizure, Focal-onset seizure, Limb myo... ORPHA:352582
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic seiz... ORPHA:485350
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Hyperactivity, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Mental deterioration OMIM:618093
Childhood Absence Epilepsy
Abnormal social behavior, Myoclonic absence seizure, Typical absence seizure, Febrile seizure (wi... ORPHA:64280
Hyperprolinemia, Type I
Hyperactivity, Seizure, Status epilepticus OMIM:239500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Cognitive impairment, Myoclonus OMIM:614487
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, No social interaction, Bilateral tonic-clonic seizure wi... OMIM:619428
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized t... ORPHA:289266
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Seizure, Poor eye contact OMIM:300983
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:618917
Pandas
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... ORPHA:66624
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Myoclonic Epilepsy Of Lafora
Dementia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal s... OMIM:254780
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus ORPHA:726
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Generalized-onset seizure, Progressive language deterioration, Hype... OMIM:610042
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seiz... ORPHA:98784
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Myoclonic spasms, Progressive language deterioration, Dementia, Motor deter... ORPHA:79264
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Dementia OMIM:540000
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic seizure, Seizure, Myo... OMIM:610539
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Seizure OMIM:248510
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Mental deterioration ORPHA:199354
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic... OMIM:612164
Cntnap2-Related Developmental And Epileptic Encephalopathy
Progressive language deterioration, Hyperactivity, Bilateral tonic-clonic seizure with focal onse... ORPHA:163681
Dk1-Cdg
Focal-onset seizure, Poor eye contact, Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:91131
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Hyperactivity, Seizure OMIM:619470
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, My... OMIM:618559
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Generalized myoclonic seizure, Seizure OMIM:618090
Trisomy 13
Cognitive impairment, Abnormality of the ureter, Anophthalmia, Hydronephrosis, Microphthalmia, Ap... ORPHA:3378
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Glycine Encephalopathy
Hyperactivity, Seizure, Myoclonus OMIM:605899
Lafora Disease
Atypical absence seizure, Atonic seizure, Dementia, Bilateral tonic-clonic seizure with focal ons... ORPHA:501
Autosomal Recessive Non-Syndromic Intellectual Disability
Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Epileptic spasm, Polymicrogyria, S... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Inability to walk ORPHA:411986
Bilateral Polymicrogyria
Cognitive impairment, Generalized-onset seizure, Perisylvian polymicrogyria, Generalized myocloni... ORPHA:268940
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Poor eye contact, Bilateral tonic-cloni... OMIM:615501
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cognitive impairment, Dementia, Motor deterioration, Generalized myoclonic seizure, Focal impaire... ORPHA:1947
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure OMIM:617169
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Focal myoclonic seizure ORPHA:464282
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure OMIM:300434
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Seizure OMIM:616977
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Multifocal seiz... OMIM:618170
Myoclonic-Astatic Epilepsy
Impaired social interactions, Lack of peer relationships, Atonic seizure, Hyperactivity, Generali... ORPHA:1942
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Myoclonus, Nocturnal se... OMIM:619725
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Xq25 Microduplication Syndrome
Hyperactivity, Seizure ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Seizure OMIM:300979
Juvenile Huntington Disease
Dementia, Seizure, Myoclonus, Hyperactivity ORPHA:248111
Coffin-Siris Syndrome 8
Hyperactivity, Seizure OMIM:618362
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Anencephaly 2
Anophthalmia OMIM:619452
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Attention defic... ORPHA:777
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Pelvic kidn... OMIM:601186
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Seizure, Status epilepticus ORPHA:529665
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Seizure OMIM:274270
Cockayne Syndrome Type 2
Anophthalmia, Ataxia, Hepatomegaly, Gait disturbance, Difficulty walking ORPHA:90322
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Horseshoe kidney, Splenogo... OMIM:156810
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus ORPHA:313772
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Pachygyria, Focal-onset... OMIM:619091
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity, Seizure, Poor eye contact OMIM:300624
Ck Syndrome
Hyperactivity, Seizure, Polymicrogyria, Pachygyria ORPHA:251383
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Focal impaired awareness seizure, Polymicrogyria, Seizure, Bilateral tonic-clonic seizure ORPHA:488613
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Fatigable weakness of neck muscles, Fatigable weakness, Febrile s... ORPHA:42
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Tonic seizure, Atonic seizure, Hyperactivity, Generalized myoclonic... OMIM:300912
Epilepsy, Nocturnal Frontal Lobe, 5
Cognitive impairment, Focal-onset seizure, Status epilepticus OMIM:615005
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... ORPHA:98795
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure, Infantile spasms ORPHA:79243
Ck Syndrome
Hyperactivity, Seizure, Polymicrogyria, Pachygyria OMIM:300831
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cognitive impairment, Generalized myoclonic seizure, Mental deterioration, Focal-onset seizure, B... ORPHA:395
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis ORPHA:66625
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Hyperactivity, Status epilepticus, Progressive psychomotor deterioration, S... ORPHA:363400
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Focal impaired awareness seizure, Epileptic spasm, Bilateral tonic-clonic seizure,... OMIM:619580
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure, Lissencephaly ORPHA:99742
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Poor eye contact, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:364028
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Anophthalmia, Congenital megaureter ORPHA:261344
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Phenylketonuria
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:261600
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Poor eye ... ORPHA:72
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Memory impairment, Abnormal social behavior, Dementia, Seizure, Myoclonus ORPHA:1020
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:544503
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hypospadias, Hypoplasia of penis ORPHA:77298
Clark-Baraitser Syndrome
Hyperactivity, Seizure OMIM:617752
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Microphthalmia, Aniridia, Asplenia OMIM:602361
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:618504
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Tonic seizure, Seizure, Infantile spasms OMIM:619239
Cln5 Disease
Generalized-onset seizure, Hyperactivity, Mental deterioration, Focal myoclonic seizure, Focal-on... ORPHA:228360
Cockayne Syndrome Type 1
Anophthalmia, Proteinuria, Hepatomegaly, Ataxia, Gait disturbance, Anemia, Renal insufficiency, D... ORPHA:90321
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure OMIM:169400
Microphthalmia, Syndromic 5
Micropenis, Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Meckel Syndrome
Anophthalmia, Accessory spleen, Ureteral duplication, Pancreatic cysts, Multicystic kidney dyspla... ORPHA:564
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:615516
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Seizure OMIM:612716
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized clonic seizure, Hyperactivity, Focal-onset seizure, Febrile seizure (... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:369929
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis ORPHA:899
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Mental deterioration, Focal-onset seizure ORPHA:329308
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Poor eye contact, Bilateral tonic-clonic seizure, Generalized non-... ORPHA:457351
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:301013
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Generalized tonic seizure... ORPHA:480864
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Atonic seizure, Generalized myoclonic seizure, Focal emotional seizur... ORPHA:79351
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Seizure OMIM:618718
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Seizure ORPHA:457260
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Seizure OMIM:615286
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Seizure OMIM:615824
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure OMIM:608809
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Seizure OMIM:252920
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Seizure OMIM:619467
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Seizure OMIM:300143
Lamb-Shaffer Syndrome
Hyperactivity, Seizure, Abnormal social behavior ORPHA:530983
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure, Progressive psychomotor deterioration OMIM:268800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Seizure ORPHA:411515
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Horseshoe kidney, Crossed fused renal ectopia, Hepatomegaly, Multicystic kidney dys... ORPHA:2538
Joubert Syndrome 21
Renal cyst, Anophthalmia, Ataxia OMIM:615636
Holoprosencephaly
Anophthalmia, Cognitive impairment, Proteinuria, Hypoplasia of penis, Microphthalmia, Abnormality... ORPHA:2162
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Status epilepticus, Generalized-onset seizure OMIM:618314
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seizure ORPHA:481152
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:617193
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Fibular Hemimelia
Anophthalmia, Thrombocytopenia, Difficulty walking ORPHA:93323
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration, Seizure OMIM:252930
Japanese Encephalitis
Cognitive impairment, Status epilepticus, Paucity of anterior horn motor neurons, Focal motor sei... ORPHA:79139
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Seizure ORPHA:3077
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Multifocal seizures, Status epilept... OMIM:618143
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Poor eye contact, Shyness, Seizure, Attention defici... ORPHA:449291
Potocki-Lupski Syndrome
Hyperactivity, Seizure, Poor eye contact OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Seizure OMIM:300958
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Microphthalmia, Syndromic 3
Anophthalmia, Micropenis, Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Hypospadias OMIM:206900
Biotinidase Deficiency
Generalized myoclonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure, Infa... ORPHA:79241
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Mend Syndrome
Hyperactivity, Seizure OMIM:300960
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Seizure OMIM:601853
Melas
Memory impairment, Dementia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:550
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:247262
Infantile Neuroaxonal Dystrophy
Hyperactivity, Mental deterioration, Seizure, Psychomotor deterioration ORPHA:35069
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:614104
Developmental And Epileptic Encephalopathy 14
Status epilepticus, Poor eye contact OMIM:614959
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Focal motor seizure, Bilateral tonic-clonic seizure, Seizur... ORPHA:2131
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure OMIM:616716
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Anophthalmia, Optic nerve aplasia ORPHA:264200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Polymicrogyria, Seizure ORPHA:457485
47,Xyy Syndrome
Impaired social interactions, Hyperactivity, Seizure, Attention deficit hyperactivity disorder ORPHA:8
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Seizure ORPHA:500180
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis ORPHA:2250
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Mental deterioration OMIM:278800
Adenylosuccinase Deficiency
Hyperactivity, Seizure, Myoclonus, Poor eye contact OMIM:103050
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Mental deterioration, Seizure ORPHA:319213
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Febrile seizure (within the age range ... ORPHA:496641
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:466943
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Hyperactivity, Myoclonic spasms, Infantile spasms ORPHA:447997
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Thrombocytopenia, Anemia, Microphallus, Lymphopenia, Hypospadias OMIM:617053
Fraser Syndrome 1
Anophthalmia, Micropenis, Renal hypoplasia, Abnormality of the thymus, Bilateral microphthalmos, ... OMIM:219000
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Attention deficit hyperactivity disorder,... ORPHA:466950
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure, Tonic seizure, Hyperactivity OMIM:619512
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Renal cyst, Lacticaciduria, Pancytopenia, Hypoplas... ORPHA:699
Charge Syndrome
Anophthalmia, Horseshoe kidney, Micropenis, Hydronephrosis, Renal hypoplasia, Microphthalmia, Sel... OMIM:214800
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Seizure OMIM:252900
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure OMIM:261515
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia ORPHA:1101
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
X-Linked Cerebral Adrenoleukodystrophy
Memory impairment, Hyperactivity, Mental deterioration, Limb myoclonus, Seizure ORPHA:139396
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Infantile spasms ORPHA:255210
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure, Hyperactivity OMIM:234100
Proboscis Lateralis
Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Duplication of renal pelvis, Ure... ORPHA:141099
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Holoprosencephaly 9
Micropenis, Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Cocaine Intoxication
Focal-onset seizure, Atypical absence status epilepticus, Bilateral tonic-clonic seizure, Seizure... ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Hyperactivity, Seizure OMIM:309520
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal penis morphology, Microphthalmia, Epispadias, Hypospadias ORPHA:2556
Kinsship Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Myo... OMIM:619297
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Leukemia ORPHA:2526
X-Linked Adrenoleukodystrophy
Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:43
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Infantile spasms, Poor eye contact, Bilateral tonic-clonic seizure, Seizure,... OMIM:301044
Focal Dermal Hypoplasia
Anophthalmia, Bifid ureter, Horseshoe kidney, Ureteral duplication, Hydronephrosis, Microphthalmi... OMIM:305600
Fraser Syndrome
Anophthalmia, Renal hypoplasia, Hypoplasia of penis, Multicystic kidney dysplasia, Microphthalmia... ORPHA:2052
Charge Syndrome
Anophthalmia, Horseshoe kidney, Micropenis, Hydronephrosis, Microphthalmia, Vesicoureteral reflux ORPHA:138
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
X-Linked Creatine Transporter Deficiency
Hyperactivity, Seizure ORPHA:52503
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Mental deterioration, Seizure OMIM:610217
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:488627
Legius Syndrome
Hyperactivity, Cognitive impairment, Seizure, Attention deficit hyperactivity disorder ORPHA:137605
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure, Poor eye contact OMIM:252010
Citrullinemia Type Ii
Hyperactivity, Seizure, Memory impairment ORPHA:247585
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:257300
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Seizure, Att... OMIM:614756
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Bilateral tonic-clonic... ORPHA:513456
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Febrile seizure (within t... ORPHA:268261
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:99885
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Impaired social interactions, Bilateral tonic-clonic seizure ORPHA:457359
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Hypospadias OMIM:300166
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized t... ORPHA:459070
Branchiooculofacial Syndrome
Renal cyst, Anophthalmia, Microphthalmia, Ectopic thymus tissue, Hypospadias OMIM:113620
Microphthalmia, Syndromic 1
Anophthalmia, Renal hypoplasia, Aggressive behavior, Microphthalmia, Self-mutilation, Hydroureter... OMIM:309800
Choreoacanthocytosis
Hyperactivity, Mental deterioration, Bradyphrenia, Bilateral tonic-clonic seizure, Seizure ORPHA:2388
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney ORPHA:1106
Microphthalmia, Syndromic 6
Microphthalmia, Renal hypoplasia, Anophthalmia OMIM:607932
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Focal-onset seizure, Epileptic spasm, Seizure, Infantile... ORPHA:805
Argininemia
Hyperactivity, Seizure OMIM:207800
Doors Syndrome
Bilateral tonic-clonic seizure, Polymicrogyria, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Craniofacial Microsomia
Ectopic kidney, Anophthalmia, Multicystic kidney dysplasia, Microphthalmia, Ureteropelvic junctio... OMIM:164210
Sotos Syndrome
Generalized myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bilateral tonic-clonic seizure on awakening, Generalized tonic seizure, Epileptic spasm, Seizure,... ORPHA:438213
Histidinemia
Hyperactivity ORPHA:2157

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kcnt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcnt1.

No publications found that use IMPC mice or data for Kcnt1.

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MGI Allele Allele Type Produced
Kcnt1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kcnt1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Kcnt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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