PCDH19‐related epilepsy is characterized by a distinctive pattern of X‐linked inheritance, where heterozygous females exhibit seizures and hemizygous males are asymptomatic. A cellular interference mechanism resulting from the presence of both wild‐type and mutant PCDH19 neurons in heterozygous patients or mosaic carriers of PCDH19 variants has been hypothesized. We aim to investigate seizure susceptibility and progression in the Pchd19 mouse model.

中文翻译：

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Pcdh19 小鼠癫痫发作易感性的表征

PCDH19 相关癫痫的特征是 X 连锁遗传的独特模式，其中杂合的女性表现出癫痫发作，而半合的男性则无症状。已经假设杂合子患者或 PCDH19 变异的镶嵌携带者中同时存在野生型和突变型 PCDH19 神经元导致细胞干扰机制。我们旨在研究 Pchd19 小鼠模型中的癫痫发作易感性和进展。