Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder
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DOI: 10.1212/wnl.0000000000009223
Abstract: Heterozygous pathogenic variants in CACNA1A are associated with 3 classic phenotypes, with variable expression and significant overlap: familial hemiplegic migraine 1, spinocerebellar ataxia 6, and episodic ataxia type 2. read more here.
Keywords: fatal brain; rare complication; pearls sters; edema rare ... See more keywords