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 REVIEW ARTICLE
Year : 2021  |  Volume : 69  |  Issue : 4  |  Page : 808--816

Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview


Molecular Genetics and Cancer Biology Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tamil Nadu, India

Correspondence Address:
Sivasamy Ramasamy
Molecular Genetics and Cancer Biology Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore - 641 046, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.325378

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Background: The voltage-dependent calcium channel α1 subunit (CACNA1A) gene plays a major role in neuronal communication. Mutation in this gene results in altered Ca2+ ion influx that modify the neurotransmitter release resulting in the development of various neurological disorders like hemiplegic migraine with cortical spreading depression, epilepsy, episodic ataxia type 2, and spinocerebellar ataxia type 6. Objective: This review aimed in portraying the frequent mutations in CACNA1A gene causing hemiplegic migraine with cortical spreading depression, epilepsy, episodic ataxia type 2 and spinocerebellar ataxia type 6. Methodology: A systematic search has been adopted in various databases using the keywords “Calcium channel,” “migraine,” “epilepsy,” “episodic ataxia,” and “spinocerebellar ataxia” for writing this review that collectively focuses on mutations in the CACNA1A gene causing the common neurological diseases from 1975 to 2019. Conclusion: Every type of mutation has its own signature in gene functioning and understanding them might aid knowing more in disease progression.






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