Summary of Kessi et al. 2023 paper on genotype-phenotype correlations of CACNA1A-related disorders
Автор: CACNA1A Foundation
Загружено: 2024-02-26
Просмотров: 219
This is a brief video summarizing "The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews" by Mirian Kessi, Baiyu Chen, Nan Pang, Lifen Yang, Jing Peng, Fang He, and Fei Yin, from the Department of Pediatrics and Clinical Research Center for Children's Neurodevelopmental Disabilities of Hunan Province at Central South University, and Hunan Intellectual and Developmental Disabilities Research Center, Pediatrics, all in Changsha China.
This 2023 paper analyzed data from CACNA1A patients, looking for patterns between genotype (variant) and phenotype (symptoms). The authors specifically focused on CACNA1A-related epilepsy, global developmental delay and intellectual disability, and autism spectrum disorder.
If you are interested in reading the paper in more detail, please go to https://www.cacna1a.org/scientific-an....
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