Familial epilepsy with polymicrogyria
OMIM:Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | FIG4 |
|---|---|
| Reference transcript | NM_014845.5 |
| DNA Change | c.2348A>T |
| A.A. Change | p.Asp783Val |
| Exon/Intron | exon 20 |
| Mutation Type | substitution |
| Reference | Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E.Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 2014 Mar 25;82(12):1068-75. |