Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 169-173, 2017.
Article
em En
| WPRIM
| ID: wpr-79080
Biblioteca responsável:
WPRO
ABSTRACT
Epilepsy of infancy with migrating focal seizure (MFEI) is an early-onset epileptic encephalopathy characterized by randomly migrating focal seizures and psychomotor deterioration. It is associated with mutations in a variety of genes, with potassium sodium-activated channel subfamily T member 1 (KCNT1) being an example. Previously reported KCNT1 mutations in MFEI are gain-of-function mutations. Therefore, quinidine therapy targeted at reduction of pathologically increased KCNT1 channel-mediated potassium conductance has been proposed as a target treatment for MEFI with KCNT1 mutation. The authors report a case involving a patient with MFEI and a missense mutation in KCNT1 (c.7129G>A; p.Phe346Leu) treated with quinidine therapy. Seizure activity was poorly responsive to quinidine.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Potássio
/
Quinidina
/
Convulsões
/
Encefalopatias
/
Mutação de Sentido Incorreto
/
Epilepsia
Limite:
Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article