KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

Lim, Chiao Xin; Ricos, Michael G; Dibbens, Leanne M; Heron, Sarah E

Lim, Chiao Xin; Ricos, Michael G; Dibbens, Leanne M; Heron, Sarah E.

Afiliación

Lim CX; Epilepsy Research Group, School of Pharmacy and Medical Sciences, Sansom Institute for Health Research and Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
Ricos MG; Epilepsy Research Group, School of Pharmacy and Medical Sciences, Sansom Institute for Health Research and Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
Dibbens LM; Epilepsy Research Group, School of Pharmacy and Medical Sciences, Sansom Institute for Health Research and Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
Heron SE; Epilepsy Research Group, School of Pharmacy and Medical Sciences, Sansom Institute for Health Research and Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.

J Med Genet ; 53(4): 217-25, 2016 Apr.

Article en En | MEDLINE | ID: mdl-26740507

Asunto(s)

Epilepsias Parciales/genética; Epilepsia/genética; Discapacidad Intelectual/genética; Proteínas del Tejido Nervioso/genética; Canales de Potasio/genética; Epilepsias Parciales/patología; Epilepsia/clasificación; Epilepsia/patología; Humanos; Discapacidad Intelectual/patología; Mutación; Canales de potasio activados por Sodio

Palabras clave

ADNFLE; Epilepsy and seizures; KCNT1; MMFSI; Potassium channel

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canales de Potasio / Epilepsias Parciales / Epilepsia / Discapacidad Intelectual / Proteínas del Tejido Nervioso Límite: Humans Idioma: En Revista: J Med Genet Año: 2016 Tipo del documento: Article País de afiliación: Australia

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