Generalized Epilepsy with Febrile Seizures Plus, Type 1 (GEFSP1)

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Disease Ontology 12 DOID:0111302 OMIM 56 604233 OMIM Phenotypic Series 56 PS604233 MeSH 43 D003294 D004829

MedGen 41 C1858672 SNOMED-CT via HPO 68 189198006 230413002 263681008 41497008 42365007 432241000124101 50866000 54200006 79631006 more UMLS 71 C1858672

OMIM : ⁵⁶ Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset of febrile seizures, termed 'generalized epilepsy with febrile seizures plus' (GEFS+). Classic febrile seizures (see, e.g., FEB1, 121210) affect approximately 3% of children under 6 years of age and are by far the most common seizure disorder; classic febrile seizures typically spontaneously remit by age 6 years. GEFS+ occurs in a small proportion of children with febrile seizures who either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Patients with GEFS+ express a highly variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, absence seizures, partial seizures, myoclonic seizures, or atonic seizures, with a variable degree of severity (summary by Wallace et al., 1998). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (604233)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 1, also known as epilepsy, generalized, with febrile seizures plus, type 1, is related to febrile seizures and visual epilepsy, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 1 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include skeletal muscle and temporal lobe, and related phenotypes are atonic seizure and bilateral tonic-clonic seizure

Disease Ontology : ¹² A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.

UniProtKB/Swiss-Prot : ⁷³ Generalized epilepsy with febrile seizures plus 1: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.

Clinical features from OMIM:

604233

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