Lack of response to quinidine in KCNT1-related neonatal epilepsy.

Numis, Adam L; Nair, Umesh; Datta, Anita N; Sands, Tristan T; Oldham, Michael S; Patel, Akash; Li, Melody; Gazina, Elena; Petrou, Steven; Cilio, Maria Roberta

Numis, Adam L; Nair, Umesh; Datta, Anita N; Sands, Tristan T; Oldham, Michael S; Patel, Akash; Li, Melody; Gazina, Elena; Petrou, Steven; Cilio, Maria Roberta.

Afiliación

Numis AL; Department of Neurology, University of California San Francisco, San Francisco, California.
Nair U; Department of Pediatrics, University of California San Francisco, San Francisco, California.
Datta AN; The Florey Institute of Neuroscience & Mental Health, Parkville, Victoria, Australia.
Sands TT; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
Oldham MS; Department of Neurology, Columbia University, New York, New York.
Patel A; Department of Neurology, University of California San Francisco, San Francisco, California.
Li M; Department of Pediatrics, University of California San Francisco, San Francisco, California.
Gazina E; The Florey Institute of Neuroscience & Mental Health, Parkville, Victoria, Australia.
Petrou S; The Florey Institute of Neuroscience & Mental Health, Parkville, Victoria, Australia.
Cilio MR; The Florey Institute of Neuroscience & Mental Health, Parkville, Victoria, Australia.

Epilepsia ; 59(10): 1889-1898, 2018 10.

Article en En | MEDLINE | ID: mdl-30182418

Asunto(s)

Anticonvulsivantes/uso terapéutico; Epilepsia/tratamiento farmacológico; Epilepsia/genética; Canal de Potasio Kv.1.1/genética; Mutación/genética; Quinidina/uso terapéutico; Animales; Anticonvulsivantes/sangre; Preescolar; Electroencefalografía; Epilepsia/diagnóstico; Femenino; Estudios de Seguimiento; Humanos; Lactante; Imagen por Resonancia Magnética; Masculino; Potenciales de la Membrana/efectos de los fármacos; Potenciales de la Membrana/genética; Mutagénesis; Oocistos; Técnicas de Placa-Clamp; Farmacogenética; Quinidina/sangre; Transducción Genética; Resultado del Tratamiento; Xenopus

Palabras clave

KCNT1; electrophysiology; epilepsy of infancy with migrating focal seizures; epileptic encephalopathy; precision medicine

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Quinidina / Epilepsia / Canal de Potasio Kv.1.1 / Anticonvulsivantes / Mutación Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Año: 2018 Tipo del documento: Article

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