Pharmacogenomic Effect/ADR for Carbamazepine (DBSNPE000143)

Identifier
DBSNPE000143
Drug
Carbamazepine (DB00564)
Interacting Gene/Enzyme
Sodium channel protein type 1 subunit alpha
Gene Name
SCN1A
UniProt ID
P35498
Defining Change(s)
IVS5N + 5 G>Ars3812718
Allele Name
Not Available
Genotype(s)
(A;A) / (A;G)
Type(s)
Effect Directly Studied
Groups
Not Available
Description
Patients with this genotype have increased resistance to the anti-epileptic effects of carbamazepine.
References
  1. Sterjev Z, Kiteva G, Cvetkovska E, Petrov I, Kuzmanovski I, Ribarska T, Nestorovska K, Matevska N, Trajkovik-Jolevska S, Dimovski A, Suturkova Lj: Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy. Balkan J Med Genet. 2012 Jun;15(1):19-24. doi: 10.2478/v10034-012-0003-1. [Article]