19.07.2022 | Research Letter
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review
verfasst von:
Zou Pan, Chen Chen, Fei Yin, Jing Peng
Erschienen in:
World Journal of Pediatrics
|
Ausgabe 9/2022
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Excerpt
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 scaffolding 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]. …