Stiripentol是欧洲药品管理局批准的抗癫痫药物（AED），用于治疗Dravet综合征（DS），作为丙戊酸盐和氯巴赞的辅助治疗。PCDH19相关癫痫是一种新兴的癫痫综合征，其特征是女性患者中癫痫的发生与精神发育迟滞和自闭症特征有关。它与DS共享许多功能：发病年龄，发病前的正常发育，发热敏感性,在此期间的认知障碍，耐药性。基于DS和PCDH19相关癫痫之间的许多相似性，我们在一名9岁半患有PCDH19相关的难治性癫痫的女性患者中尝试了stiripentol，作为丙戊酸盐和氯巴赞的附加治疗。它具有令人惊讶的疗效，因为患者有两年零十个月的无癫痫发作期，从来没有在她的癫痫病史。到目前为止,stitripentol的临床试验一直集中在DS.新的癫痫综合征的轮廓，作为PCDH19相关的癫痫，为使用此AED打开了新的方案。该病例报告提示PCDH19相关癫痫对替利坦妥可有良好反应。然而，需要进一步的病例和所有的临床试验来证实这一结果。
Stiripentol is an antiepileptic drug (AED) approved by the European Medicines Agency for the treatment of Dravet Syndrome (DS) as adjunct treatment with valproate and clobazam. PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases. It shares many features with DS: age of onset, normal development before the onset, fever sensitivity, cognitive impairment during the time, drug-resistance. Basing on the numerous similarities between DS and PCDH19-related epilepsy, we tried
stiripentol in a nine and half year old female patient with PCDH19-related resistant epilepsy, as add-on treatment to valproate and clobazam. It had a surprising efficacy as the patient had a two years and ten months seizure free period, as never in her epilepsy history. Up to date, clinical trials of
stiripentol have been always focused on DS. The delineation of new epileptic syndromes, as PCDH19-related epilepsy, opens new scenarios to the utilization of this AED. This
case report is suggestive of a good response of PCDH19-related Epilepsy to
stiripentol. However further cases and above all clinical trials are necessary to confirm this result.
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