PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behavioral disturbances, which is caused by PCDH19 gene variants. PCDH19 pathogenic variant leads to epilepsy in heterozygous females, not in hemizygous males and the inheritance pattern is unusual. The hypothesis of cellular interference was described as a key pathogenic mechanism. According to that, males do not develop the disease because of the uniform expression of PCDH19 (variant or wild type) unless they have a somatic variation.

中文翻译：

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PCDH19 丛集性癫痫、病理生理学和临床意义

PCDH19 丛集性癫痫 (PCDH19-CE) 是一种与智力障碍 (ID) 和行为障碍相关的 X 连锁癫痫疾病，由 PCDH19 基因变异引起。 PCDH19致病性变异会导致杂合子女性癫痫，​​但不会导致半合子男性癫痫，并且遗传模式不寻常。细胞干扰假说被描述为关键的致病机制。据此，男性不会患上这种疾病，因为PCDH19（变异型或野生型）的一致表达，除非它们有体细胞变异。