Febrile Seizures, Familial, 8 (FEB8)

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Disease Ontology 12 DOID:0111298 OMIM 57 607681 PS121210 PS604233

MeSH 44 D003294 D004829 D004832 MedGen 42 C1843244 C1858674 C1969810

UniProtKB/Swiss-Prot : ⁷⁴ Epilepsy, childhood absence 2: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. Febrile seizures, familial, 8: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Generalized epilepsy with febrile seizures plus 3: 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.

MalaCards based summary : Febrile Seizures, Familial, 8, also known as generalized epilepsy with febrile seizures plus 3, is related to ataxia and polyneuropathy, adult-onset and tremor, and has symptoms including absence seizures An important gene associated with Febrile Seizures, Familial, 8 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). Affiliated tissues include bone and pancreas, and related phenotypes are generalized tonic-clonic seizures and eeg with polyspike wave complexes

Disease Ontology : ¹² A familial febrile seizures that has material basis in heterozygous mutation in GABRG2 on chromosome 5q34.

OMIM : ⁵⁷ Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by Singh et al., 1999 and Marini et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see 600131. (607681)

Clinical features from OMIM:

607681

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