Associated Papers
CACNA1A Genetic Variants and Their Potential Involvement in Migraine Pathogenesis.
Szymanowicz O et al.
International Journal of Molecular Sciences, 2025
Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.
Zhu CH et al.
Cerebellum (london, England), 2024
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Jaudon F et al.
Biomedicines, 2020
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Stendel C et al.
International Journal of Molecular Sciences, 2020
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
Indelicato E et al.
European Journal of Neurology, 2019
Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies.
Tyagi S et al.
Frontiers in Molecular Neuroscience, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K et al.
European Journal of Medical Genetics, 2014
CaV2.1 channelopathies.
Pietrobon D
Pflugers Archiv : European Journal of Physiology, 2010
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
Zafeiriou DI et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.
Mezghrani A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.
Jeng CJ et al.
Journal of Cellular Physiology, 2008
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Molecular pathogenesis of spinocerebellar ataxias.
Dueñas AM et al.
Brain : a Journal of Neurology, 2006
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
Tonelli A et al.
Journal of the Neurological Sciences, 2006
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
Wan J et al.
Neurology, 2005
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
Mantuano E et al.
Journal of Medical Genetics, 2004
When calcium goes wrong: genetic alterations of a ubiquitous signaling route.
Rizzuto R et al.
Nature Genetics, 2003
Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.
Wappl E et al.
The Journal of Biological Chemistry, 2002
Calcium channels and channelopathies of the central nervous system.
Pietrobon D
Molecular Neurobiology, 2002
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
Jen J et al.
Neurology, 2001
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
Guida S et al.
American Journal of Human Genetics, 2001
Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview.
Manickam AH et al.
Neurology India, 0