Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

• Xi Luo ,

  Contributed equally to this work with: Xi Luo, Jill A. Rosenfeld

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Jill A. Rosenfeld ,

  Contributed equally to this work with: Xi Luo, Jill A. Rosenfeld

  Roles Conceptualization, Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  http://orcid.org/0000-0001-5664-7987

  ⨯
• Shinya Yamamoto,

  Roles Conceptualization, Funding acquisition, Methodology, Supervision, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America

  http://orcid.org/0000-0003-2172-8036

  ⨯
• Tamar Harel,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Zhongyuan Zuo,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Melissa Hall,

  Roles Resources, Writing – review & editing

  Affiliation University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America

  ⨯
• Klaas J. Wierenga,

  Roles Resources, Writing – review & editing

  Affiliation University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America

  ⨯
• Matthew T. Pastore,

  Roles Resources, Writing – review & editing

  Affiliation Nationwide Children’s Hospital & The Ohio State University, Columbus, OH, United States of America

  http://orcid.org/0000-0001-9888-0779

  ⨯
• Dennis Bartholomew,

  Roles Resources, Writing – review & editing

  Affiliation Nationwide Children’s Hospital & The Ohio State University, Columbus, OH, United States of America

  ⨯
• Mauricio R. Delgado,

  Roles Resources, Writing – review & editing

  Affiliation Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center andTexas Scottish Rite Hospital, Dallas, TX, United States of America

  ⨯
• Joshua Rotenberg,

  Roles Resources, Writing – review & editing

  Affiliation Houston Specialty Clinic, Houston, TX, United States of America

  ⨯
• Richard Alan Lewis,

  Roles Resources, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America, Texas Children’s Hospital, Houston, TX, United States of America

  http://orcid.org/0000-0002-6644-6385

  ⨯
• Lisa Emrick,

  Roles Resources, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Carlos A. Bacino,

  Roles Resources, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Mohammad K. Eldomery,

  Roles Investigation, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Zeynep Coban Akdemir,

  Roles Investigation, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  http://orcid.org/0000-0001-9928-9032

  ⨯
• Fan Xia,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Yaping Yang,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Seema R. Lalani,

  Roles Investigation, Resources, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• Timothy Lotze,

  Roles Investigation, Resources, Writing – review & editing

  Affiliation Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America

  ⨯
• James R. Lupski,

  Roles Conceptualization, Funding acquisition, Visualization, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America, Texas Children’s Hospital, Houston, TX, United States of America

  ⨯
• Brendan Lee,

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America

  http://orcid.org/0000-0001-8573-4211

  ⨯
• Hugo J. Bellen,

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America, Howard Hughes Medical Institute, Houston TX, United States of America

  ⨯
• Michael F. Wangler ,

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: michael.wangler@bcm.edu

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America

  http://orcid.org/0000-0001-5245-5910

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•  [ ... ],
• Members of the UDN

  ¶Membership of the UDN is provided in the supporting information.

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