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Article

A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.

Human genetics - 1 Jun 2014

Zeng Tao, Dong Zhao-Fei, Liu Shu-Jing, Wan Rui-Ping, Tang Ling-Jia, Liu Ting, Zhao Qi-Hua, Shi Yi-Wu, Yi Yong-Hong, Liao Wei-Ping, Long Yue-Sheng

Abstract excerpt

Mutations in the SCN1A gene-encoding voltage-gated sodium channel α-I subunit (Nav1.1) cause various spectrum of epilepsies including Dravet syndrome (DS), a severe and intractable form. A large number of SCN1A mutations identified from the DS patients lead to the loss of function or truncation of Nav1.1 that result in a haploinsufficiency effects, indicating that the exact expression level of SCN1A should be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Myoclonic

Share to Glyceraldehyde-3-Phosphate Dehydrogenases

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Source

Identifiers

PMID: 24464349
DOI: 10.1007/s00439-014-1422-8

Genes

GAPDH

Provenance

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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A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.PMID 24464349Read ↗

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