Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

Lauxmann, Stephan; Verbeek, Nienke E; Liu, Yuanyuan; Zaichuk, Mariana; Müller, Stephan; Lemke, Johannes R; van Kempen, Marjan J A; Lerche, Holger; Hedrich, Ulrike B S

Lauxmann, Stephan; Verbeek, Nienke E; Liu, Yuanyuan; Zaichuk, Mariana; Müller, Stephan; Lemke, Johannes R; van Kempen, Marjan J A; Lerche, Holger; Hedrich, Ulrike B S.

Afiliação

Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Verbeek NE; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
Liu Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Zaichuk M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Müller S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
van Kempen MJA; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

Hum Mutat ; 39(12): 1942-1956, 2018 12.

Article em En | MEDLINE | ID: mdl-30144217

Assuntos

Substituição de Aminoácidos; Síndromes Epilépticas/fisiopatologia; Canal de Sódio Disparado por Voltagem NAV1.2/genética; Canal de Sódio Disparado por Voltagem NAV1.2/metabolismo; Linhagem Celular; Fenômenos Eletrofisiológicos; Síndromes Epilépticas/genética; Síndromes Epilépticas/metabolismo; Feminino; Variação Genética; Humanos; Lactente; Recém-Nascido; Masculino; Linhagem; Fenótipo; Índice de Gravidade de Doença

Palavras-chave

BFNIE; SCN2A; developmental and epileptic encephalopathy; electrophysiological-clinical relationship; epileptic seizures; ion channel defect; literature overview

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Substituição de Aminoácidos / Canal de Sódio Disparado por Voltagem NAV1.2 / Síndromes Epilépticas Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha

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