Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.

Zhu, Bangfu; Mak, Jennifer C H; Morris, Andrew P; Marson, Anthony G; Barclay, Jeff W; Sills, Graeme J; Morgan, Alan

Zhu, Bangfu; Mak, Jennifer C H; Morris, Andrew P; Marson, Anthony G; Barclay, Jeff W; Sills, Graeme J; Morgan, Alan.

Afiliação

Zhu B; Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
Mak JCH; Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
Morris AP; Max Planck Institute for Biology of Ageing, Cologne, Germany.
Marson AG; Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
Barclay JW; Department of Biostatistics, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
Sills GJ; Division of Musculoskeletal and Dermatological Sciences, University of Manchester, Manchester, UK.
Morgan A; Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.

Epilepsia ; 61(4): 810-821, 2020 04.

Article em En | MEDLINE | ID: mdl-32112430

Assuntos

Modelos Animais de Doenças; Epilepsia/genética; Proteínas Munc18/genética; Animais; Animais Geneticamente Modificados; Caenorhabditis elegans; Proteínas de Caenorhabditis elegans/genética; Humanos; Mutação; Proteínas de Transporte Vesicular/genética

Palavras-chave

SNARE; epileptic encephalopathy; exocytosis; nematode; synapse

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Modelos Animais de Doenças / Epilepsia / Proteínas Munc18 Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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