Associated Papers
The expanding spectrum of eye movement disorders in genetic dystonia syndromes.
Lin WS
Parkinsonism & Related Disorders, 2026
Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.
Kim S et al.
Journal of Clinical Neurology (seoul, Korea), 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
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
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
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
van den Maagdenberg AM et al.
Journal of Neurology, 2002
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
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