Epilepsy, myoclonic juvenile
OMIM:254770Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | EFHC1 |
|---|---|
| Reference transcript | NM_018100.3 |
| DNA Change | c.685T>C |
| A.A. Change | p.Phe229Leu |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Berger 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. |