Disease: Generalized Epilepsy With Febrile Seizures Plus, Type 2

Name Generalized Epilepsy With Febrile Seizures Plus, Type 2

Synonyms GEFS+, TYPE 2; GEFS+2 | FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED; FEB3A, INCLUDED

Classification genetic, neurological

Phenotypes Atonic seizure; Autosomal dominant inheritance; Bilateral tonic-clonic seizure; Childhood onset; Febrile seizure (within the age range of 3 months to 6 years); Focal hemiclonic seizure; Generalized myoclonic seizure; Generalized non-motor (absence) seizure; Generalized tonic seizure; Variable expressivity

Associated Genes SCN1A (Withdrawn symbols: FEB3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI )

Mouse Orthologs Scn1a

Source OMIM:604403 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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