Quinidine in the treatment of KCNT1-positive epilepsies.
Ann Neurol
; 78(6): 995-9, 2015 Dec.
Article
em En
| MEDLINE
| ID: mdl-26369628
ABSTRACT
We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG. The other, who had a novel phenotype, with severe nocturnal focal and secondary generalized seizures starting in early childhood with developmental regression, did not improve. Although quinidine represents an encouraging opportunity for therapeutic benefits, our experience suggests caution in its application and supports the need to identify more targeted drugs for KCNT1 epilepsies.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Quinidina
/
Canais de Potássio
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Inibidores Enzimáticos
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Epilepsia Resistente a Medicamentos
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Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Child, preschool
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Female
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Humans
/
Male
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Nova Caledônia