CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

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Bibliographic Details
Title: CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
Authors: Hommersom MP; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Doorn N; Department of Clinical Neurophysiology, University of Twente, Enschede 7522 NB, The Netherlands., Puvogel S; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Lewerissa EI; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Mordelt A; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Ciptasari U; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Kampshoff F; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Dillen L; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., van Beusekom E; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Oudakker A; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Kogo N; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Dolga AM; Department of Pathology and Medical Biology, Division of Pathology, University of Groningen, University Medical Center Groningen, Groningen 9713 GZ, The Netherlands.; Department of Molecular Pharmacology, Groningen Research Institute of Pharmacy, University of Groningen, Groningen 9713 AV, The Netherlands., Frega M; Department of Clinical Neurophysiology, University of Twente, Enschede 7522 NB, The Netherlands., Schubert D; Department of Cognitive Neurosciences, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., van de Warrenburg BPC; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Nadif Kasri N; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.; Department of Cognitive Neurosciences, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.; Department of Cognitive Neurosciences, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.
Source: Brain : a journal of neurology [Brain] 2025 Apr 03; Vol. 148 (4), pp. 1286-1301.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1460-2156
DOI:10.1093/brain/awae330