Quiz Form

Question Date: 26/06/2023

Question: Episodic ataxia type 2, Familial Hemiplegic migraine, Spinocerebellar ataxia type 6, epileptic encephalopathy, paroxysmal dystonia, autism spectrum disorder, learning disorders are associated with which of the following common genetic mutations?

Options:

• CACNA1A
• SCN4A
• KCNJ2
• CLCN1

Correct Answer: CACNA1A

Explaination: In the era of next generation sequencing CACNA1A mutations have varied spectrum of disorders with age dependency like- epileptic encephalopathy, paroxysmal dystonia, ASD, learning disorders, EA2, FHM, SCA6

Reference: Indelicato, E. & Boesch, S. From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing. Frontiers in Neurology 12, (2021).