Epilepsy, progressive myoclonic 3
OMIM:611726Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | KCTD7 |
|---|---|
| Reference transcript | NM_153033.4 |
| DNA Change | c.295C>T |
| A.A. Change | p.Arg99X |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Van Bogaert P, Azizieh R, D?sir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ.Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol. 2007 Jun;61(6):579-86. |