The clinical characteristics and therapeutic effect of PCDH19 gene-related epilepsy
- VernacularTitle:PCDH19基因相关癫痫患者的临床特征及治疗效果分析
- Author:
Hua LI
1
;
Mei OUYANG
1
;
Peiqi ZHANG
1
Author Information
- Publication Type:Journal Article
- Keywords: PCDH19; Epilepsy; Gene mutation; Therapy
- From: Journal of Apoplexy and Nervous Diseases 2021;38(11):971-975
- CountryChina
- Language:Chinese
- Abstract: 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 generelated epilepsy.
- Full text:2024072822265870219The clinical characteristics and therapeutic effect of PCDH19 generelated epilepsy.pdf
