Diversity of CACNA1A-related disorders
Author:
Publisher
Media Sphere Publishing Group
Subject
Psychiatry and Mental health,Neurology (clinical)
Reference32 articles.
1. On-line Mendelian Inheritance in Man (OMIM) https://www.ncbi.nlm.nih.gov/omim
2. Human Gene Mutation Database (HGMD) Professional 2020.4 [Internet]. Accessed Mar 15, 2021. https://digitalinsights.qiagen.com/products-overview/clinical-insights-portfolio
3. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
4. Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine
5. A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine
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