摘要
目的探讨PCDH19基因相关癫痫患者的临床特征及治疗效果。方法回顾性分析2014年9月至2019年1月在广东三九脑科医院就诊的11例PCDH19基因相关癫痫患者的资料,包括临床特征、检查结果、治疗及随访结果等。结果11例患者均为女性,癫痫起病年龄6~24 m不等,9例(82%)患者在1岁以内起病。所有患者均有丛集性发作,91%(10/11)患者具有热敏感,只有1例患者有癫痫持续状态。发作形式主要是局灶性发作及全面强直阵挛发作。7例患者存在发育落后。9例患者基因突变位于1号外显子,2例位于3号外显子,5例错义突变,4例移码突变,2例无义突变,7例患者的基因突变为新发突变。非丛集性发作期的70%(7/10)脑电图提示正常,丛集性发作期脑电图均有异常,但有13%(3/23)未见癫痫样放电,同一个患者癫痫样放电部位不恒定。所有患者至少使用两种抗癫痫药物,其中5例患者加用左乙拉西坦后至少10 m无发作,最长1例患者有37 m无发作,其次有效的药物是丙戊酸、托吡酯、氯硝西泮及苯巴比妥,最多见有效的治疗组合是丙戊酸添加左乙拉西坦治疗。结论PCDH19基因相关癫痫具有起病年龄小、热敏感及丛集性发作的特点,非丛集性发作期脑电图往往正常,多需要多药联合治疗,添加左乙拉西坦对该病有明显的效果。
Objective To explore the clinical characteristics and therapeutic effect of PCDH19 gene-related epilepsy.Methods The data of 11 patients with PCDH19 gene-related epilepsy in Guangdong 999 brain hospital from September 2014 to January 2019 were retrospectively analyzed,including clinical features,examination,treatment and follow-up results.Results All the 11 patients were female.The onset age of seizure ranged from 6 to 24 months,and 9 patients(82%)onset within 1 year.Seizures in clusters were observed in all patients,fever sensitivity in 91%(10/11),and status epilepticus only one.The major seizure types were focal seizures and generalized tonic clonic seizures.Seven patients were development delay.Nine mutations were located in exon 1 and two in exon 3.Five missense mutations,four frameshift mutations and two nonsense mutations were found.Seven mutations were de novo.70%(7/10)of EEG indicated normal in the period of non-cluster seizures.All EEG were abnormal during cluster episodes,but 13%(3/23)of among showed no epileptiform discharge,and the epileptiform discharge site was not constant in the same patient.All of the patients at least use two kinds of antiepileptic drugs.Five patients are seizure free for at least 10 months after the addition of levetiracetam,and one patient was seizure free for 37 months.The second effective drugs are valproic acid,topiramate,clonazepam and Phenobarbital.Valproic acid plus levetiracetam is most effective treatment group.Conclusion Early onset of seizures,fever sensitivity and cluster seizures are characteristic in PCDH19 gene-related epilepsy.EEG is often normal during cluster episodes.Multi-drug combination therapy is often required,and the addition of levetiracetam has a significant effect on PCDH19 gene-related epilepsy.
作者
李花
欧阳梅
张佩琪
彭凯
金洋
董晓立
胡玮冰
闫宏钧
赵黎明
LI Hua;OUYANG Mei;ZHANG Peiqi(Epileptic Center of Guangdong 999 Brain Hospital,Guangzhou,510510,China)
出处
《中风与神经疾病杂志》
CAS
2021年第11期971-975,共5页
Journal of Apoplexy and Nervous Diseases
