Lennox-Gastaut syndrome caused by CHD2 gene de novo variation:three cases report and literature review
NIU Yue
ZHOU Zong-pu
JIAO Xian-ru
XU Zhao
QIN Jiong
YANG Zhi-xian
Abstract：Objective To report clinical characteristics of Lennox-Gastaut syndrome(LGS)caused by CHD2 gene de novo variation.Methods and Results Three children with LGS admitted to Peking University People's Hospital from June 2023 to May 2024 were enrolled.Their onset ages were 3 months,3 years and 4 months,and 3 years and 5 months,respectively.All 3 cases were transformed from infantile spasms(IS),presenting with spasm epileptic seizures,tonic seizures and global developmental delay.EEG initially showed hypsarrhythmia,which later progressed to generalized and multifocal discharges during disease progression.Whole exome sequencing(WES)revealed a missense variant c.2740C>T(p.Arg914Cys)in Case 1,a nonsense variant c.806C>G(p.Ser269*)in Case 2,and a missense variant c.2492A>C(p.His831Pro)in Case 3;neither parent carried the same type of variation,all variants were de novo.Three patients received antiepileptic seizure medicine(ASM),and at the last follow-up,seizures remained uncontrolled in all patients.Conclusions LGS caused by CHD2 gene variation typically present in childhood,often with delayed motor and language development.Most patients have uncontrollable seizures that are often resistant to medication.
Keywords：Lennox Gastaut syndromeEpilepsyGenesMutationChildpreschool
Publication Date：2025-11-25
Online Publishing Date：2025-12-16(First online date of this platform, not the publication date of the document)
Pages：8( 1012-1019 )