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

• Pierre Coste de Bagneaux ,

  Contributed equally to this work with: Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals

  Roles Conceptualization, Data curation, Investigation, Writing – original draft

  Affiliation Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria

  http://orcid.org/0000-0002-3583-9223

  ⨯
• Leonie von Elsner ,

  Contributed equally to this work with: Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals

  Roles Conceptualization, Data curation, Investigation, Validation, Writing – original draft

  Affiliation Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  http://orcid.org/0000-0002-0578-9317

  ⨯
• Tatjana Bierhals ,

  Contributed equally to this work with: Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals

  Roles Investigation

  Affiliation Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  http://orcid.org/0000-0002-6103-105X

  ⨯
• Marta Campiglio,

  Roles Conceptualization, Investigation, Writing – original draft

  Affiliation Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria

  http://orcid.org/0000-0002-9629-2073

  ⨯
• Jessika Johannsen,

  Roles Investigation, Writing – original draft

  Affiliation Childrens Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  http://orcid.org/0000-0002-2095-3891

  ⨯
• Gerald J. Obermair,

  Roles Conceptualization, Data curation, Funding acquisition, Supervision, Writing – original draft

  Affiliations Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria, Division Physiology, Karl Landsteiner University of Health Sciences, Krems, Austria

  http://orcid.org/0000-0003-0005-8563

  ⨯
• Maja Hempel,

  Roles Investigation, Writing – original draft

  Affiliation Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  http://orcid.org/0000-0003-0609-2738

  ⨯
• Bernhard E. Flucher ,

  Roles Conceptualization, Funding acquisition, Supervision, Writing – original draft

  * E-mail: bernhard.e.flucher@i-med.ac.at (BEF); kkutsche@uke.de (KK)

  ¶‡ These authors also contributed equally to this work.

  Affiliation Department of Physiology and Medical Physics, Medical University Innsbruck, Innsbruck, Austria

  http://orcid.org/0000-0002-5255-4705

  ⨯
• Kerstin Kutsche

  Roles Conceptualization, Funding acquisition, Supervision, Validation, Writing – original draft

  * E-mail: bernhard.e.flucher@i-med.ac.at (BEF); kkutsche@uke.de (KK)

  ¶‡ These authors also contributed equally to this work.

  Affiliation Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  http://orcid.org/0000-0001-8494-8963

  ⨯