Author:
Kang Qingyun,Yang Liming,Liao Hongmei,Yang Sai,Kuang Xiaojun,Ning Zeshu,Liao Caishi,Chen Bo
Abstract
Abstract
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 with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported.
Case presentation
A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports.
Conclusions
These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.
Funder
Health and Family Planning Commission of Hunan Province
Health and Family Planning Commission of Sichuan Province
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Cited by
9 articles.
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