Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy:a case series and literature review

作     者：Zou Pan Chen Chen Fei Yin Jing Peng Zou Pan;Chen Chen;Fei Yin;Jing Peng

作者机构：Department of PediatricsXiangya Hospital of Central South UniversityChangsha410008China Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan ProvinceXiangya HospitalCentral South UniversityChangsha410008China 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2022年第18卷第9期

页      面：636-641页

核心收录：

学科分类：1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：study was funded in part by the National Natural Science Foundation of China(Grant no.81771409 and 82071462) Natural Science Foundation of Hunan Province(Grant no.2021JJ40969) 

主　　题：epilepsy structure. 

摘      要：NBEA(MIM#604,889)is a novel disease causative gene that responds for neurodevelopment disorder with or without generalized epilepsy(NEDEGE,MIM#619,157).It encodes neurobeachin protein,a multi-domain neuro-specific scaf-folding protein that plays a vital role in vesicle trafficking and synaptic *** was initially observed in an idiopathic autism patient,and thus NBEA has been regarded as a candidate autism gene for nearly two decades[1-4].In 2018,Mulhern et *** 24 individuals with de novo heterozygous NBEA variants with neurodevelopmental delay with autism and early onset generalized epilepsy,which led the Online Mendian Inheritance in Man(OMIM)team to identify it as a disease-causing gene for NEDEGE[5].Since then,only a few NBEA-related cases with similar clinical phenotypes have been reported[6-8].