Genetic Variant in Nicotinic Receptor &#945;4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening.

Mazzaferro, Simone; Msekela, Deborah J; Cooper, Edward C; Maheshwari, Atul; Sine, Steven M

Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening.

Mazzaferro, Simone; Msekela, Deborah J; Cooper, Edward C; Maheshwari, Atul; Sine, Steven M.

Afiliação

Mazzaferro S; Departments of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA.
Msekela DJ; Departments of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA.
Cooper EC; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Maheshwari A; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Sine SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Int J Mol Sci ; 23(20)2022 Oct 12.

Article em En | MEDLINE | ID: mdl-36292983

Assuntos

Receptores Nicotínicos; Receptores Nicotínicos/genética; Receptores Nicotínicos/química; Membrana Celular; Sono; Oócitos/fisiologia

Palavras-chave

gain-of-function variant; ion-channel conductance; ion-channel gating; neuronal nicotinic acetylcholine receptor; patch-clamp; single ion-channel; sleep-related hyperkinetic epilepsy; spontaneous channel gating

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Nicotínicos Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

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