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

Epilepsy, myoclonic juvenile

OMIM:254770
Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolEFHC1
Reference transcriptNM_018100.3
DNA Changec.685T>C
A.A. Changep.Phe229Leu
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceBerger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O.Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Epilepsia. 2012 Aug;53(8):1436-40.