Intellectual disability and structural defects of the CaV2.1 channel in episodic ataxia type 2: correlation using an AI prediction model
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Background: Episodic ataxia type 2 (EA2) results from pathogenic variants in CACNA1A that encodes the CaV2.1 P/Q-type calcium channel. The molecular basis of cognitive impairments requires further elucidation in EA2. ... ...
