Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults
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Deleterious variants in the CACNA1A gene, encoding the CaV2.1 P/Q-type voltage-gated calcium channel, cause a broad spectrum of neurological disorders, including familial hemiplegic migraine, episodic ataxia, and developmental and epileptic encephalopathy (DEE... ...
