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

Laurence Gauquelin,Cynthia Hawkins,Emily W Y Tam,Steven P Miller,Grace Yoon

NEUROLOGY（2020）

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摘要

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.

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