GABRG2 was first reported in relation to autosomal dominant epilepsy as early as 2001 (Baulac et al., Wallace et al.; PMID: 11326274, 11326275). Eight unique variants (missense, nonsense, and splice site) are included in this curation to maximize the score for genetic evidence; however, more probands are available in the literature (PMID: 11326274, 12117362, 27066572, 27864268, 28460589, 31004928). Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Proband phenotypes included febrile seizures, complex partial seizures, childhood absence epilepsy, GEFS+, epileptic encephalopathy, epilepsy of infancy with migrating focal seizures, Lennox-like epilepsy, and Lennox-Gastaut syndrome. While these phenotypes exist on a spectrum, the Epilepsy GCEP decided to lump these conditions under the general term for epilepsy until more evidence is available. Variants in this gene segregated with disease in 16 additional family members across 3 families (PMID: 11326274, 12117362, 27066572). This gene-disease association is supported by multiple mouse models. In summary, GABRG2 is definitively associated with autosomal dominant epilepsy.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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