Associated Papers
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.
Zhao X et al.
Epilepsy & Behavior : E&b, 2024
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
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.
Naseer MI et al.
Frontiers in Pediatrics, 2022
Involvement of the Peripheral Nervous System in Episodic Ataxias.
Koźmiński W et al.
Biomedicines, 2020
Episodic Ataxias: Faux or Real?
Giunti P 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
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Episodic Ataxias: Clinical and Genetic Features.
Choi KD et al.
Journal of Movement Disorders, 2016
Structure and function of the β subunit of voltage-gated Ca²⁺ channels.
Buraei Z et al.
Biochimica Et Biophysica Acta, 2013
Genetics of recurrent vertigo and vestibular disorders.
Gazquez I et al.
Current Genomics, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.
Andrade DM
Human Genetics, 2009
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
New variants in the CACNA1H gene identified in childhood absence epilepsy.
Liang J et al.
Neuroscience Letters, 2006
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
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
Disease causing mutations of calcium channels.
Lorenzon NM et al.
Channels (austin, Tex.), 0