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YUHSpace1. College of Medicine (의과대학)Dept. of Laboratory Medicine (진단검사의학교실)1. Journal Papers

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Issue Date	Title	Journal Title
2019	A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With Everolimus	PEDIATRIC NEUROLOGY
2022	Analysis of trio test in neurodevelopmental disorders	FRONTIERS IN PEDIATRICS
2021	Clinical characteristics of KCNQ2 encephalopathy	BRAIN & DEVELOPMENT
2020	Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development	PEDIATRIC NEUROLOGY
2023	Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders	JOURNAL OF MOLECULAR DIAGNOSTICS
2018	Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단	Journal of the Korean Child Neurology Society
2021	Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome	EPILEPSIA
2018	Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations	JOURNAL OF CLINICAL NEUROLOGY
2018	Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing	BMC MEDICAL GENOMICS
2021	Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish	HUMAN MOLECULAR GENETICS
2019	Genetic and clinical features of SCN8A developmental and epileptic encephalopathy	EPILEPSY RESEARCH
2020	Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern	EPILEPSY RESEARCH
2017	KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예	Journal of the Korean Child Neurology Society
2017	Mowat-Wilson syndrome presenting with fever-associated seizures	EPILEPTIC DISORDERS
2023	Population pharmacokinetics of everolimus in patients with seizures associated with focal cortical dysplasia	FRONTIERS IN PHARMACOLOGY
2019	Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities	PEDIATRIC NEUROLOGY
2020	Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations	FRONTIERS IN NEUROLOGY
2018	Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy	EPILEPSY RESEARCH
2020	Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy	BRAIN & DEVELOPMENT
2018	The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy	FRONTIERS IN NEUROLOGY

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