PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritance. The causative gene, PCDH19, is on the X-chromosome and encodes a cell–cell adhesion protein with restricted expression during brain development. Unlike other X-linked disorders, PCDH19-CE manifests in heterozygous females. Strikingly, hemizygous males are not affected. However, males with postzygotic somatic mutation in PCDH19 are affected and clinically similar to the affected females. PCDH19-CE is a disorder of cellular mosaicism. The coexistence of two different, but otherwise ‘normal’ cells in a PCDH19-CE individual, that is the wild type and the variant PCDH19 cells, has been proposed as the driving force of the disorder. This ‘cellular interference’ hypothesis could and has now been tested using sophisticated mouse models.

PCDH19聚集性癫痫（CE）是一种具有独特遗传性的有趣的早期发作性癫痫，自闭症和神经认知障碍。致病基因PCDH19位于X染色体上，编码在大脑发育过程中表达受限的细胞间粘附蛋白。与其他X连锁疾病不同，PCDH19-CE出现在杂合女性中。令人惊讶的是，半合子男性不受影响。然而，随着postzygotic体细胞突变的男性PCDH19受到影响，临床上类似，受影响的女性。PCDH19-CE是一种细胞镶嵌症。PCDH19-CE个体中两个不同但“正常”细胞的共存，即野生型和变异型PCDH19细胞，已被提出作为疾病的驱动力。这种“细胞干扰”的假设可以并且已经使用复杂的小鼠模型进行了测试。