Article

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

2025-04-26

Abstract excerpt

CACNA1A encodes the P/Q-type Ca V 2.1 calcium channels whose function underlies neuronal excitability, presynaptic neurotransmitter release, and Ca 2+ signaling in neurons. Pathogenic variants in CACNA1A have been found in individuals with various neurological conditions, including hemiplegic migraine, epilepsy, developmental delay, and ataxia. Clinical presentations can vary significantly between patients, wit...

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Literature Corpus work: 738f519f-68fc-5962-a687-7740ffd22a5a
DOI: 10.1101/2025.04.23.650298

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