CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/164_2022_625
Reference147 articles.
1. Arteche-Lopez A et al (2021) Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. Eur J Hum Genet 29:1520–1526
2. Artto V et al (2007) Treatment of hemiplegic migraine with triptans. Eur J Neurol 14:1053–1056
3. Bain PG et al (1992) Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 31:147–154
4. Battistini S et al (1999) A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology 53:38–43
5. Bavassano C et al (2017) Bicistronic CACNA1A gene expression in neurons derived from spinocerebellar ataxia type 6 patient-induced pluripotent stem cells. Stem Cells Dev 26:1612–1625
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