FIG4
Gene name: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)OMIM ID: 609390
Chromosome location: 6q21
Mutations
| Disease/Phenotype | Familial epilepsy with polymicrogyria |
|---|---|
| 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. |