A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia-Reference-Cited by-同舟云学术

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia

Published:2024-10 Issue:5 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Dannenberg Fabian¹^ORCID,Von Moers Arpad¹,Bittigau Petra¹^ORCID,Lange Jörn¹,Wiegand Sylvia¹,Török Ferenc¹^ORCID,Stölting Gabriel¹^ORCID,Striessnig Jörg¹^ORCID,Motazacker M. Mahdi¹^ORCID,Broekema Marjoleine F.¹^ORCID,Schuelke Markus¹^ORCID,Kaindl Angela M.¹^ORCID,Scholl Ute I.¹^ORCID,Ortner Nadine J.¹^ORCID

Affiliation:

1. From the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck,...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200186

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4. Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

5. Ortner NJ. CACNA1D-Related Channelopathies: From Hypertension to Autism. Springer Berlin Heidelberg; 2023.