Associated Papers
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.
Mayo S et al.
International Journal of Molecular Sciences, 2023
Involvement of the Peripheral Nervous System in Episodic Ataxias.
Koźmiński W et al.
Biomedicines, 2020
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G et al.
International Journal of Molecular Sciences, 2020
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.
Coste de Bagneaux P et al.
Plos Genetics, 2020
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
The β4 subunit of the voltage-gated calcium channel (Cacnb4) regulates the rate of cell proliferation in Chinese Hamster Ovary cells.
Rima M et al.
The International Journal of Biochemistry & Cell Biology, 2017
Episodic Ataxias: Clinical and Genetic Features.
Choi KD et al.
Journal of Movement Disorders, 2016
The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells.
Etemad S et al.
Channels (austin, Tex.), 2014
Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.
Tadmouri A et al.
The Embo Journal, 2012
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
Rajakulendran S et al.
Nature Reviews. Neurology, 2012
Genetics of recurrent vertigo and vestibular disorders.
Gazquez I et al.
Current Genomics, 2011
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.
Layouni S et al.
Epilepsy Research, 2010
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Childhood absence epilepsy: genes, channels, neurons and networks.
Crunelli V et al.
Nature Reviews. Neuroscience, 2002
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
Escayg A et al.
American Journal of Human Genetics, 2000
Nuclear life of the voltage-gated Cacnb4 subunit and its role in gene transcription regulation.
Ronjat M et al.
Channels (austin, Tex.), 0