A Novel de novo CACNA1G Variant p.(Arg1553Gln) Associated with Neurodevelopmental Delay and Cerebellar Hypoplasia: Expanding the Phenotypic Spectrum
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CACNA1G encodes the Cav3.1 T-type calcium channel, a key regulator of neuronal excitability and thalamocortical rhythmicity. Pathogenic variants have been associated with neurodevelopmental disorders, frequently accompanied by epilepsy and cerebellar abnormali... ...
