Phenotypic and Genotypic Characteristics of Children with PCDH19 Clustering Epilepsy in China

The PCDH19 gene, located at Xq22.3, encodes a calcium-dependent molecule crucial for cell-cell adhesion through homophilic binding, primarily achieved via extracellular cadherin domains [1-3]. Numerous studies have focused on the impact of PCDH19 on neurons, particularly cortical and hippocampal neurons [4,5]. These factors underlie the pathogenesis of epilepsy due to mutations in the PCDH19 gene. PCDH19 has been reported as one of the six genes most closely associated with genetic epilepsies [6].

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