Abstract：
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.
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.
摘要：
PCDH19相关癫痫是一种罕见的X连锁型癫痫，由原钙黏着蛋白19（PCDH19）基因的基因组变异引起。PCDH19相关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。
我们介绍了一例4岁女性，由PCDH19基因的新变异引起的PCDH19相关癫痫。我们的患者在12个月大时首次入院，原因是在失足症的情况下出现癫痫发作。脑电图（EEG）显示额叶阵发性活动。遗传分析确定了这两个变体c.1006G>A（p。Val336Met）和c.1014C>A（p。Asp338Glu)在基因PCDH19。患者接受卡马西平和氯硝西泮治疗，癫痫发作消失。在后续行动中,神经系统检查持续正常，既无认知障碍，也无行为障碍。从2岁开始，脑电图对照一直正常。
该患者表现出两种新的PCDH19基因变异，与轻度形式的癫痫相关，认知发育正常，预后明显较好。根据我们的经验,卡马西平和氯硝西泮的双重治疗可以很好地控制癫痫发作。
我们介绍了一例4岁女性，由PCDH19基因的新变异引起的PCDH19相关癫痫。我们的患者在12个月大时首次入院，原因是在失足症的情况下出现癫痫发作。脑电图（EEG）显示额叶阵发性活动。遗传分析确定了这两个变体c.1006G>A（p。Val336Met）和c.1014C>A（p。Asp338Glu)在基因PCDH19。患者接受卡马西平和氯硝西泮治疗，癫痫发作消失。在后续行动中,神经系统检查持续正常，既无认知障碍，也无行为障碍。从2岁开始，脑电图对照一直正常。
该患者表现出两种新的PCDH19基因变异，与轻度形式的癫痫相关，认知发育正常，预后明显较好。根据我们的经验,卡马西平和氯硝西泮的双重治疗可以很好地控制癫痫发作。
