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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
Hmami, Fouzia; Wood, Sian-Elin; Chaouki, Sana; Oulmaati, Abdellah; Hida, Mustapha; Rees, Mark I; Chung, Seo-Kyung; Bouharrou, Abdelhak.
Afiliación
  • Hmami F; Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
  • Wood SE; Neurology and Molecular Neuroscience Research Group, Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK.
  • Chaouki S; Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez, Pediatric Department (Neurophysiological exploration unit), CHU HASSAN II, Fez, Morocco.
  • Oulmaati A; Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
  • Hida M; Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez, Pediatric Department (Neurophysiological exploration unit), CHU HASSAN II, Fez, Morocco.
  • Rees MI; Neurology and Molecular Neuroscience Research Group, Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK.
  • Chung SK; Neurology and Molecular Neuroscience Research Group, Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK.
  • Bouharrou A; Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
Epileptic Disord ; 16(3): 354-7, 2014 Sep.
Article en En | MEDLINE | ID: mdl-25036534

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Reflejo de Sobresalto / Síndrome de la Persona Rígida / Receptores de Glicina Límite: Humans / Male / Newborn Idioma: En Revista: Epileptic Disord Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2014 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Reflejo de Sobresalto / Síndrome de la Persona Rígida / Receptores de Glicina Límite: Humans / Male / Newborn Idioma: En Revista: Epileptic Disord Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2014 Tipo del documento: Article