Six cases of NPRL2-related epilepsy and literature review
10.3760/cma.j.cn101070-20240424-00255
- VernacularTitle:NPRL2变异相关癫痫6例并文献复习
- Author:
Shimin ZHANG
1
;
Jing LIU
;
Qiu LYU
;
Qianru JIAO
;
Yue NIU
;
Zhao XU
;
Zongpu ZHOU
;
Jiong QIN
;
Zhixian YANG
Author Information
1. 北京大学人民医院儿科，北京 100044
- Publication Type:Journal Article
- Keywords:
Epilepsy;
GATOR1;
NPRL2;
NPRL3;
DEPDC5;
Mammalian target of Rapamycin
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(1):56-59
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical phenotypes, genotypes, and treatment outcomes of NPRL2-related epilepsy. Methods:This was a case summary.Clinical data of patients with NRPL2 variants admitted to the Department of Pediatrics, Peking University People′s Hospital between October 1, 2013 and October 31, 2023 were retrospectively analyzed.Previous reports of patients with the same disease were reviewed. Results:Six cases of NPRL2-related epilepsy were collected, and 37 cases were reported in the previous literatures.The age of onset ranged from 3 days to 18 years with the median age of 24 months.There were 15 patients with onset in infancy.Among the 41 patients diagnosed with epilepsy, 73.1% (30/41) had focal seizures, 34.1% (14/41) had frontal lobe epilepsy, and 17.1% (7/41) had epileptic spasms.Among the patients with known cranial imaging, 58.6% (17/29) had cortical malformations. NPRL2 variants involved 11 nonsense mutations, 10 splice site mutations, 7 frameshift mutations, 1 large fragment deletion, and 14 missense mutations; among them, 39 mutations were pathogenic or likely pathogenic, while the rest 4 mutations had unclear pathogenicity.Among the 27 patients with known outcomes, 11 (40.7%) had no seizures after administration of 1 or 2 types of drugs, and 16 (59.2%) had drug-resistant epilepsy.Among the 16 patients, 1 had no seizures after treatment with 3 types of anti seizure medications, and 7 had no seizures after surgery.Most patients had varying degrees of delay in intellectual and motor development. Conclusions:Patients with NPRL2 variants usually present with frequent focal seizures and epileptic spasms, and the age of onset varies greatly.About half of the patients have drug-resistant epilepsy, half of whom have cortical malformations.For those with drug-resistant epilepsy and abnormal cranial imaging, surgery may be considered.
