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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 [14]. 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 [68]. …
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Metadaten
Titel
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
Publikationsdatum
19.07.2022
Verlag
Springer Nature Singapore
Erschienen in
World Journal of Pediatrics / Ausgabe 9/2022
Print ISSN: 1708-8569
Elektronische ISSN: 1867-0687
DOI
https://doi.org/10.1007/s12519-022-00567-9

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