Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FIG4

Gene name: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
OMIM ID: 609390
Chromosome location: 6q21

Mutations

Disease/PhenotypeFamilial epilepsy with polymicrogyria
Reference transcriptNM_014845.5
DNA Changec.2348A>T
A.A. Changep.Asp783Val
Exon/Intronexon 20
Mutation Typesubstitution
ReferenceBaulac 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.