<i>KCNQ2</i> Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Lee, Inn-Chi; Yang, Jiann-Jou; Liou, Ying-Ming; Wong, Swee-Hee

KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Lee, Inn-Chi; Yang, Jiann-Jou; Liou, Ying-Ming; Wong, Swee-Hee.

Afiliação

Lee IC; Division and Pediatric Neurology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung 40201, Taiwan.
Yang JJ; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung 40201, Taiwan.
Liou YM; Genetics Laboratory and Department of Biomedical Sciences, Chung Shan Medical University, Taichung 40201, Taiwan.
Wong SH; Department of Life Sciences, National Chung-Hsing University, Taichung 40227, Taiwan.

Cells ; 11(5)2022 03 05.

Article em En | MEDLINE | ID: mdl-35269516

Assuntos

Transtorno do Espectro Autista; Encefalopatias; Aminoácidos; Encefalopatias/genética; Humanos; Canal de Potássio KCNQ2/química; Canal de Potássio KCNQ2/genética; Canal de Potássio KCNQ2/metabolismo; Mutação/genética

Palavras-chave

ASD; KCNQ2; children; epileptic encephalopathy; whole-cell patch-clamp analysis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Cells Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Taiwan

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