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

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...

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Detaylı Bibliyografya
Yayımlandı:BMC Pediatr
Asıl Yazarlar: Kang, Qingyun, Yang, Liming, Liao, Hongmei, Yang, Sai, Kuang, Xiaojun, Ning, Zeshu, Liao, Caishi, Chen, Bo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8167971/
https://ncbi.nlm.nih.gov/pubmed/34074259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-021-02719-8
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