Article
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
Handbook of experimental pharmacology - 1 Jan 2023
Indelicato Elisabetta, Boesch Sylvia
Abstract excerpt
In the last decade, variants in the Ca2+ channel gene CACNA1A emerged as a frequent aetiology of rare neurological phenotypes sharing a common denominator of variable paroxysmal manifestations and chronic cerebellar dysfunction. The spectrum of paroxysmal manifestations encompasses migraine with hemiplegic aura, episodic ataxia, epilepsy and paroxysmal non-epileptic movement disorders. Additional chronic...
Topics
- Humans
- Ataxia
- Calcium Channels
- Cerebellar Ataxia
- Channelopathies
- Migraine Disorders
- Mutation
