Phenotypic and genetic features in 2 cases of developmental and epileptic encephalopathy 85 caused by SMC1A mutations
HUANG Bing-long
LI Cheng-yan
WANG You
RONG Shi-wen
LUO Han
LIU Ling
LIN Yong-wen
Abstract：Objective To summarize the phenotypic and genetic features of 2 cases of developmental and epileptic encephalopathy 85(DEE85)caused by SMC1A mutations.Methods Clinical data and peripheral blood of 2 children with DEE85 were collected.The potential pathogenic genes were detected by whole exome sequencing.Results Two female children developed the frequent tonic-clonic seizure in infancy,with developmental delay and mild facial deformity.EEG showed diffuse slow wave.MRI revealed no midline brain defects.Genetic analysis uncovered de novo heterozygous variants of SMC1A gene,c.511C>T(p.Arg171Ter)and c.138_139insA(p.Phe47IlefsTer5).The seizures and developmental delay remained after treated with several antiepileptic drugs.Conclusion DEE85 caused by SMC1A mutations is X-linked dominant inheritance,and presents with infancy-onset refractory epilepsy and developmental delay.
Keywords：SMC1A genedevelopmental and epileptic encephalopathy 85developmental delay
Publication Date：2024-08-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 417-420,426 )