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Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

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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. Click to show full 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.

Keywords: fatal brain; rare complication; pearls sters; edema rare; sters fatal; brain edema

Journal Title: Neurology
Year Published: 2020

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