PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. PCDH19 gene is located in Xq22 and produces nonclustered delta protocadherin. This disorder primarily manifests in heterozygote females due to random X chromosome inactivation leading to somatic mosaicism and abnormal cellular interference between cells with and without delta-protocadherin. This article reviews the clinical features based on a comprehensive literature review (MEDLINE using PubMed and OvidSP vendors with appropriate keywords to incorporate recent evidence), personal practice, and experience. Significant progress has been made in the past 10 years, including identification of the gene responsible for the condition, characterization of clinical phenotypes, and development of animal models. More rigorous studies involving quality-of-life measures as well as standardized neuropsychiatric testing are necessary to understand the full spectrum of the disease. The recent discovery of allopregnanolone deficiency in patients with PCDH19-related epilepsy leads to opportunities in precision therapy. A phase 3 clinical study is currently active to evaluate the efficacy, safety, and tolerability of adjunctive ganaxolone (an allopregnanolone analog) therapy.

中文翻译：

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PCDH19相关的癫痫综合征：全面的临床评价。

PCDH19相关的癫痫病是一种独特的儿童发作性癫痫综合征，其特征在于主要在三岁之前发作，短暂的高热和高热惊厥发作，认知障碍，自闭症特征和行为异常。PCDH19基因位于Xq22，可产生非簇状的三角洲原钙粘蛋白。该疾病主要表现在杂合子雌性中，这是由于随机X染色体失活导致体细胞镶嵌和有或没有δ原钙粘蛋白的细胞之间异常的细胞干扰。本文基于全面的文献综述（使用PubMed和OvidSP供应商的MEDLINE，并带有适当的关键词以结合最近的证据），个人实践和经验来回顾临床特征。在过去的十年中，我们取得了重大进展，包括确定导致疾病的基因，临床表型的特征以及动物模型的发展。为了了解疾病的全部范围，有必要进行更严格的研究，包括生活质量测量以及标准化的神经精神病学测试。最近发现与PCDH19相关的癫痫患者中的allopregnanolone缺乏症导致了精准治疗的机会。目前正在进行一项3期临床研究，以评估辅助性ganaxolone（一种Allopregnanolone类似物）疗法的疗效，安全性和耐受性。为了了解疾病的全部范围，有必要进行更严格的研究，包括生活质量测量以及标准化的神经精神病学检查。最近发现与PCDH19相关的癫痫患者中的allopregnanolone缺乏症导致了精准治疗的机会。目前正在进行一项3期临床研究，以评估辅助性ganaxolone（一种Allopregnanolone类似物）疗法的疗效，安全性和耐受性。为了了解疾病的全部范围，有必要进行更严格的研究，包括生活质量测量以及标准化的神经精神病学检查。最近发现与PCDH19相关的癫痫患者中的allopregnanolone缺乏症导致了精准治疗的机会。目前正在进行一项3期临床研究，以评估辅助性ganaxolone（一种Allopregnanolone类似物）疗法的疗效，安全性和耐受性。