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

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Disease Ontology 12 DOID:0111302 OMIM® 57 604233 OMIM Phenotypic Series 57 PS604233 MeSH 44 D003294 D004829

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

OMIM® : ⁵⁷ Generalized epilepsy with febrile seizures plus, type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, 121210), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by Wallace et al., 1998 and Singh et al., 1999). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (604233) (Updated 05-Mar-2021)

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 seizure disorder, 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 Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include skeletal muscle, 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 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 1.