CPA6
Gene name: carboxypeptidase A6OMIM ID: 609562
Chromosome location: 8q13.2
Mutations
| Disease/Phenotype | Febrile seizures, familial, 11 |
|---|---|
| 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. |