Febrile seizures, familial, 11
OMIM:614418Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
Gene Symbol | CPA6 |
---|---|
Reference transcript | NM_020361.4 |
DNA Change | c.809C>T |
A.A. Change | p.Ala270Val |
Exon/Intron | exon 8 |
Mutation Type | substitution |
Reference | Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A.Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. Hum Mutat. 2012 Jan;33(1):124-35. |