An emerging spectrum of variants and clinical features in <i>KCNMA1</i>-linked channelopathy.

Miller, Jacob P; Moldenhauer, Hans J; Keros, Sotirios; Meredith, Andrea L

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Miller, Jacob P; Moldenhauer, Hans J; Keros, Sotirios; Meredith, Andrea L.

Afiliação

Miller JP; Department of Physiology, University of Maryland School of Medicine, Baltimore, MD, USA.
Moldenhauer HJ; Department of Physiology, University of Maryland School of Medicine, Baltimore, MD, USA.
Keros S; Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
Meredith AL; Department of Physiology, University of Maryland School of Medicine, Baltimore, MD, USA.

Channels (Austin) ; 15(1): 447-464, 2021 12.

Article em En | MEDLINE | ID: mdl-34224328

Assuntos

Canalopatias; Adolescente; Pré-Escolar; Distonia; Humanos; Lactente

Palavras-chave

BK channel; GEPD; KCNMA1; KCa1.1; MaxiK; PNKD3; Slo; calcium-activated potassium channel; channelopathy; developmental delay; epilepsy; intellectual disability; movement disorder; paroxysmal non-kinesigenic dyskinesia; potassium channel; seizure; slowpoke

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canalopatias Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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