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

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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
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  Data: CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
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  Data: <searchLink fieldCode="AU" term="%22Hommersom+MP%22">Hommersom MP</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Doorn+N%22">Doorn N</searchLink>; Department of Clinical Neurophysiology, University of Twente, Enschede 7522 NB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Puvogel+S%22">Puvogel S</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lewerissa+EI%22">Lewerissa EI</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mordelt+A%22">Mordelt A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ciptasari+U%22">Ciptasari U</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kampshoff+F%22">Kampshoff F</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dillen+L%22">Dillen L</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Beusekom+E%22">van Beusekom E</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oudakker+A%22">Oudakker A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kogo+N%22">Kogo N</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dolga+AM%22">Dolga AM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Frega+M%22">Frega M</searchLink>; Department of Clinical Neurophysiology, University of Twente, Enschede 7522 NB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schubert+D%22">Schubert D</searchLink>; Department of Cognitive Neurosciences, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Warrenburg+BPC%22">van de Warrenburg BPC</searchLink>; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nadif+Kasri+N%22">Nadif Kasri N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+Bokhoven+H%22">van Bokhoven H</searchLink>; 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.
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