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CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

4 May 2022

Abstract excerpt

Purpose Previously, mutations in the voltage-gated calcium channel subunit alpha1 A ( CACNA1A ) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2. To determine the relationship between CACNA1A and epilepsies and the role of molecular sub-regional on the phenotypic heterogeneity. Methods Trio-based whole-exome sequencing was performed in 318 cases with partial...

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PMID: 35600082
DOI: 10.3389/fnmol.2022.860662

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