The genotype-phenotype correlations of the CACNA1A -related neurodevelopmental disorders: a small case series and literature reviews.

Miriam Kessi,Baiyu Chen,Nan Pang,Lifen Yang,Jing Peng,Fang He,Fei Yin

Frontiers in molecular neuroscience（2023）

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摘要

The p.A713T variant is linked with severe-profound GDD/ID. More than half of -related epilepsy is refractory. The most common epileptic manifestation is status epilepticus, which correlates with variants located on S4, S5, and S6.

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关键词

neurodevelopmental disorders,genotype–phenotype correlations,a-related

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