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Reagents, Molecular Assay, Gene Anomaly, Mutation, CACNA1A

Definition : Molecular assay reagents intended to identify mutations in the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) gene, located at chromosome 19p13.2-13.1, which encodes for the alpha-1A subunit of P/Q-type calcium channels, with predominant expression in neuronal tissue. Mutations at this locus have been identified in patients with several diseases with clinical overlaps, including spinocerebellar ataxia type 6, familial hemiplegic 1 (MHP1), and episodic ataxia type 2 (EA-2), also known as acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA).

Entry Terms : "Migraine Gene Mutation Detection Reagents" , "Ataxia Gene Mutation Detection Reagents" , "Spinocerebellar Ataxia Type 6 (SCA6) Gene Mutation Detection Reagents" , "Familial Hemiplegic Migraine Type I (FHM1) Gene Mutation Detection Reagents" , "Episodic Ataxia Type 2 (EA2) Gene Mutation Detection Reagents" , "CACNA1A Gene Mutation Detection Reagents"

UMDC code : 24325

   

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