Associated Papers
Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.
Nikonishyna YV et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
CaV2.1 channelopathies.
Pietrobon D
Pflugers Archiv : European Journal of Physiology, 2010
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
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
Select a paper to view details