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 

机构地区：[1]Department of Pediatrics,Xiangya Hospital of Central South University,Changsha,410008,China [2]Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province,Xiangya Hospital,Central South University,Changsha,410008,China

出　　处：《World Journal of Pediatrics》2022年第9期636-641,共6页世界儿科杂志（英文版）

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).

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 structure.NBEA 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 al.reported 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].

关 键 词：EPILEPSY structure. 

分 类 号：R742.1[医药卫生—神经病学与精神病学]