De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Rogers, Amanda; Golumbek, Paul; Cellini, Elena; Doccini, Viola; Guerrini, Renzo; Wallgren-Pettersson, Carina; Thuresson, Ann-Charlotte; Gurnett, Christina A

Rogers, Amanda; Golumbek, Paul; Cellini, Elena; Doccini, Viola; Guerrini, Renzo; Wallgren-Pettersson, Carina; Thuresson, Ann-Charlotte; Gurnett, Christina A.

Afiliación

Rogers A; Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.
Golumbek P; Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.
Cellini E; Anna Meyer Children's Hospital, University of Florence, Firenze, Italy.
Doccini V; Anna Meyer Children's Hospital, University of Florence, Firenze, Italy.
Guerrini R; Anna Meyer Children's Hospital, University of Florence, Firenze, Italy.
Wallgren-Pettersson C; Department of Medical and Clinical Genetics, Folkhaelsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
Thuresson AC; Science for Life Laboratory, Department of Immunology, Genetics, and Pathology, Uppsala University, Uppsala, Sweden.
Gurnett CA; Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.

Am J Med Genet A ; 176(8): 1748-1752, 2018 08.

Article en En | MEDLINE | ID: mdl-30055040

Asunto(s)

Disfunción Cognitiva/genética; Epilepsia/genética; Canal de Potasio Kv.1.1/genética; Canal de Potasio Kv.1.2/genética; Secuencias de Aminoácidos/genética; Ataxia/genética; Niño; Preescolar; Disfunción Cognitiva/fisiopatología; Epilepsia/fisiopatología; Femenino; Predisposición Genética a la Enfermedad; Humanos; Recién Nacido; Masculino; Mutación; Miocimia/genética; Fenotipo

Palabras clave

KCNA1, KCNA2; PVP motif; cognitive impairment; epilepsy; epileptic encephalopathy; infantile epilepsy; potassium channel mutation

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Canal de Potasio Kv.1.1 / Canal de Potasio Kv.1.2 / Disfunción Cognitiva Límite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article

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