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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux, Pierre; von Elsner, Leonie; Bierhals, Tatjana; Campiglio, Marta; Johannsen, Jessika; Obermair, Gerald J; Hempel, Maja; Flucher, Bernhard E; Kutsche, Kerstin.
Affiliation
  • Coste de Bagneaux P; Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria.
  • von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Campiglio M; Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria.
  • Johannsen J; Childrens Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Obermair GJ; Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria.
  • Hempel M; Division Physiology, Karl Landsteiner University of Health Sciences, Krems, Austria.
  • Flucher BE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kutsche K; Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria.
PLoS Genet ; 16(3): e1008625, 2020 03.
Article in En | MEDLINE | ID: mdl-32176688
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Full text: 1 Database: MEDLINE Main subject: Calcium Channels / Mutation, Missense / Protein Subunits / Neurodevelopmental Disorders Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Calcium Channels / Mutation, Missense / Protein Subunits / Neurodevelopmental Disorders Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Year: 2020 Type: Article