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조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고

Other Titles
 De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report 
 장한밀  ;  원동주  ;  신새암  ;  이승태  ;  최종락  ;  이준수 
 Laboratory Medicine Online, Vol.12(2) : 134-137, 2022-04 
Journal Title
Laboratory Medicine Online
Issue Date
HCN1 ; Neurodevelopmental disease ; Early infantile epileptic encephalopathy ; de novo mutation ; Next-generation sequencing
Early infantile epileptic encephalopathy (EIEE) is a group of brain disorders characterized by spontaneous seizures occurring at an early age. EIEE is caused by mutations in various genes, including HCN1. Here, we report a Korean patient with EIEE carrying a de novo mutation in the HCN1 gene. A female infant with unremarkable birth and family history showed status epilepticus four months after birth. Next-generation sequencing analysis revealed a heterozygous missense mutation, c.794T>A(p.Leu265His), in HCN1. The variant was not observed in any population control dataset, and in silico pathogenicity analyses predicted the variant to be pathogenic. Subsequent family testing by Sanger sequencing confirmed that the variant was a de novo mutation. These findings provide insights for predicting patient prognosis and the possibility of developing targeted therapy.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Won, Dongju(원동주) ORCID logo https://orcid.org/0000-0002-0084-0216
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Jang, Hanmil(장한밀)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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