Browsing "1. Journal Papers" by Author : 2286

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Showing results 11 to 19 of 19

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Issue DateTitleJournal Title
2019Genetic and clinical features of SCN8A developmental and epileptic encephalopathyEPILEPSY RESEARCH
2020Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression patternEPILEPSY RESEARCH
2017KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예 Journal of the Korean Child Neurology Society
2017Mowat-Wilson syndrome presenting with fever-associated seizuresEPILEPTIC DISORDERS
2019Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesPEDIATRIC NEUROLOGY
2018Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathyEPILEPSY RESEARCH
2020Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathyBRAIN & DEVELOPMENT
2018The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy FRONTIERS IN NEUROLOGY
2022조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고 Laboratory Medicine Online
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