Title : CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.

Pub. Date : 2006 Feb

PMID : 16583725






5 Functional Relationships(s)
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1 CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens
2 CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens
3 RESULTS: In this study we identified a new missense mutation in exon 12 of the CACNA1A gene from a patient with EA-2 whose symptoms could be controlled with a combination of acetazolamide and valproic acid. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens
4 RESULTS: In this study we identified a new missense mutation in exon 12 of the CACNA1A gene from a patient with EA-2 whose symptoms could be controlled with a combination of acetazolamide and valproic acid. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens
5 Here we describe a patient with a novel mutation in the CACNA1A gene who responded positively to a combination of acetazolamide and valproic acid. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens