A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.

Calame, Daniel G; Houck, Kimberly; Lotze, Timothy; Emrick, Lisa; Parnes, Mered

Calame, Daniel G; Houck, Kimberly; Lotze, Timothy; Emrick, Lisa; Parnes, Mered.

Afiliación

Calame DG; Baylor College of Medicine, Department of Pediatric Neurology and Developmental Neuroscience, Houston, TX, USA. Electronic address: daniel.calame@bcm.edu.
Houck K; Baylor College of Medicine, Department of Pediatric Neurology and Developmental Neuroscience, Houston, TX, USA.
Lotze T; Baylor College of Medicine, Department of Pediatric Neurology and Developmental Neuroscience, Houston, TX, USA.
Emrick L; Baylor College of Medicine, Department of Pediatric Neurology and Developmental Neuroscience, Houston, TX, USA.
Parnes M; Baylor College of Medicine, Department of Pediatric Neurology and Developmental Neuroscience, Houston, TX, USA.

Eur J Paediatr Neurol ; 31: 21-26, 2021 Mar.

Article en En | MEDLINE | ID: mdl-33578253

Asunto(s)

Hemiplejía/genética; Migraña con Aura/genética; ATPasa Intercambiadora de Sodio-Potasio/genética; Preescolar; Humanos; Lactante; Masculino; Mutación; Fenotipo

Palabras clave

ATP1A2; ATP1A3; Alternating hemiplegia of childhood; Familial hemiplegic migraine

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ATPasa Intercambiadora de Sodio-Potasio / Migraña con Aura / Hemiplejía Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article

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