Journal
BMC PEDIATRICS
Volume 21, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12887-021-02719-8
Keywords
TRPM3; DEE; Seizure; Video-EEG; Case report
Categories
Funding
- Scientific Research Project of Hunan Health and Family Planning Commission [B20180528]
- Hunan Health and Family Planning Commission
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This study presented a novel patient with DEE carrying a de novo missense mutation in TRPM3, expanding the spectrum of TRPM3 mutations and supporting the idea that de novo substitutions of TRPM3 could be a cause of DEE. The patient's clinical phenotype was consistent with previous reports.
BackgroundDevelopmental 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 presentationA 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.ConclusionsThese findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.
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