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Article

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.

European journal of medical genetics - 1 Jan 2021

Zhao Xuechao, Wang Yanhong, Cai Aojie, Mei Shiyue, Liu Ning, Kong Xiangdong

Abstract excerpt

N-ethylmaleimide-sensitive factor attachment proteins (NAP: NAPA and NAPB) play a role in Soluble N-ethylmaleimide-sensitive accessory protein receptor (SNARE) complex dissociation and recycling, associated with neuronal regulation and brain development and various severe early-onset epilepsies. Here, we report two patients from a Chinese family presenting with unexplained early-onset epileptic encephalopathies...

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Identifiers

PMID: 33189936
DOI: 10.1016/j.ejmg.2020.104101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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