MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.

Borlot, Felippe; Whitney, Robyn; Cohn, Ronald D; Weiss, Shelly K

Borlot, Felippe; Whitney, Robyn; Cohn, Ronald D; Weiss, Shelly K.

Afiliación

Borlot F; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Whitney R; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: robyn.whitney@sickkids.ca.
Cohn RD; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
Weiss SK; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.

Seizure ; 67: 86-90, 2019 Apr.

Article en En | MEDLINE | ID: mdl-30922778

Asunto(s)

Epilepsia/genética; Mutación; Encéfalo/fisiopatología; Preescolar; Epilepsia/fisiopatología; Epilepsia/psicología; Epilepsia/terapia; Humanos; Factores de Transcripción MEF2/genética; Masculino; Fenotipo

Palabras clave

EEG; Electroclinical manifestations; Epilepsy; MEF2C; Myoclonia

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia / Mutación Límite: Child, preschool / Humans / Male Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Canadá

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google