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

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]. …