A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

van der Wijst, Jenny; Konrad, Martin; Verkaart, Sjoerd A J; Tkaczyk, Marcin; Latta, Femke; Altmüller, Janine; Thiele, Holger; Beck, Bodo; Schlingmann, Karl Peter; de Baaij, Jeroen H F

van der Wijst, Jenny; Konrad, Martin; Verkaart, Sjoerd A J; Tkaczyk, Marcin; Latta, Femke; Altmüller, Janine; Thiele, Holger; Beck, Bodo; Schlingmann, Karl Peter; de Baaij, Jeroen H F.

Afiliação

van der Wijst J; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Konrad M; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
Verkaart SAJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Tkaczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Latta F; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Beck B; Department of Human Genetics, University of Cologne, Cologne, Germany.
Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Nephron ; 139(4): 359-366, 2018.

Article em En | MEDLINE | ID: mdl-29791908

Assuntos

Canal de Potássio Kv1.1/genética; Deficiência de Magnésio/genética; Tetania/genética; Biotinilação; Pré-Escolar; DNA/genética; Fenômenos Eletrofisiológicos/genética; Exoma; Feminino; Células HEK293; Humanos; Magnésio/sangue; Deficiência de Magnésio/sangue; Cãibra Muscular/genética; Mutação/genética; Técnicas de Patch-Clamp; Linhagem; Análise de Sequência de DNA

Palavras-chave

Genetics; Hypomagnesemia; Magnesium; Patch clamp; Potassium channel

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tetania / Canal de Potássio Kv1.1 / Deficiência de Magnésio Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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