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Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.

Weixing FengZihan WangXiaohui WangShuhua ChenXiaoyi ChenChunhong ChenJie DengXiuwei ZhuoJing Wang
Published in: Seizure (2024)
In this study, 13 new potential rare pathogenic variations in PCDH19 clustering epilepsy were identified. The clinical features observed in patients are consistent with known phenotypic features, and we found that patients with drug-resistant epilepsy are more likely to have developmental delays. The severity of the phenotype in patients with PCDH19 variants ranged from drug-responsive seizures to refractory epilepsy.
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