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Article

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.

BMC pediatrics - 1 Jun 2021

Kang Qingyun, Yang Liming, Liao Hongmei, Yang Sai, Kuang Xiaojun, Ning Zeshu, Liao Caishi, Chen Bo

Abstract excerpt

BACKGROUND: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34074259
DOI: 10.1186/s12887-021-02719-8
PMCID: PMC8167971

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