Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Piazzale Giorgio Menghini 1, Perugia, Italy.
Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy.
BMC Med Genomics. 2022 Aug 17;15(1):181. doi: 10.1186/s12920-022-01313-w.
PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients.
We present a case of a 4-year old female with PCDH19-related epilepsycaused by new variants in the PCDH19 gene. Our patient was admitted for the first time at the age of 12 months for seizure clusters arising under condition of apyrexia. The electroencephalography (EEG) showed frontal paroxysmal activity. The genetic analysis identified the two variants c.1006G > A (p.Val336Met) and c.1014C > A (p.Asp338Glu) in the gene PCDH19. The patient was treated with Carbamazepine and Clonazepam achieving the disappearance of seizures. During the follow-up, the neurological examination was persistently normal with neither cognitive impairment nor behavior disturbances. From 2 years of age EEG controls were persistently normal.
This patient presents two novel variants of the PCDH19 gene associated with a mild form of epilepsy with normal cognitive development with an apparently better prognosis. According to our experience, the dual therapy with Carbamazepine and Clonazepam has led to a good control of seizures.
PCDH19 相关性癫痫是一种由原钙黏蛋白 19（PCDH19）基因突变引起的罕见 X 连锁遗传性癫痫。PCDH19 相关性癫痫的临床特征是癫痫和非癫痫症状，患者之间严重程度差异很大。
我们报告了一例由 PCDH19 基因新变异引起的 PCDH19 相关性癫痫患儿。我们的患者首次于 12 个月龄时因发热性癫痫发作入院。脑电图（EEG）显示额部阵发性活动。基因分析发现基因 PCDH19 中的两个变异 c.1006G>A（p.Val336Met）和 c.1014C>A（p.Asp338Glu）。该患者接受卡马西平和氯硝西泮治疗，癫痫发作消失。随访期间，神经系统检查持续正常，无认知障碍或行为障碍。2 岁时 EEG 持续正常。
该患者存在 PCDH19 基因的两个新变异，与认知发育正常的轻度癫痫有关，具有明显更好的预后。根据我们的经验，卡马西平联合氯硝西泮的双药治疗可良好控制癫痫发作。
