Generalized epilepsy with febrile seizures plus type 12 (GEFSP12) is characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Some mutation carriers do not have febrile seizures, but demonstrate focal, generalized, rare myoclonic-atonic seizures, or nonspecific epilepsy consistent with idiopathic generalized epilepsy (EIG; see 600669). The transmission pattern of GEFSP12 is consistent with autosomal dominant inheritance with variable expressivity within families and incomplete penetrance (Heron et al., 2021).
For a discussion of genetic heterogeneity of GEFS+, see 604233. [from OMIM]
Also known as: DEE114, GEFSP12, VGAT, VIAAT, VIAAT GEFSP12, SLC32A1
Summary: solute carrier family 32 member 1
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