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Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy

Authors
 Ara Ko  ;  Song Ee Youn  ;  Se Hee Kim  ;  Joon Soo Lee  ;  Sangwoo Kim  ;  Jong Rak Choi  ;  Heung Dong Kim  ;  Seung-Tae Lee  ;  Hoon-Chul Kang 
Citation
 Epilepsy Research, Vol.141 : 48-55, 2018 
Journal Title
 Epilepsy Research 
ISSN
 0920-1211 
Issue Date
2018
Keywords
Developmental and epileptic encephalopathy ; Gene panel ; Next-generation sequencing
Abstract
OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS: We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. RESULTS: In 103 (37.1%) of the 278 patients with DEE, 35 different disease-causing monogenic mutations were identified. The diagnostic yield was higher among patients who were younger at seizure onset, especially those whose seizures started during the neonatal period, and in patients with drug-resistant epilepsy. According to epilepsy syndromes, the diagnostic yield was the highest among patients with West syndrome (WS) with a history of neonatal seizures and mutations in KCNQ2 and STXBP1 were most frequently identified. On the basis of genotypes, we evaluated the clinical progression and seizure outcomes with specific therapeutic regimens; these were similar to those reported previously. In particular, sodium channel blockers were effective in patients with mutations in KCNQ2 and SCN2A in infancy, as well as SCN8A, and interestingly, the ketogenic diet also showed diverse efficacy for patients with SCN1A, CDKL5, KCNQ2, STXBP1, and SCN2A mutations. Unfortunately, quinidine was not effective in 2 patients with migrating focal epilepsy in infancy related to KCNT1 mutations. CONCLUSION: Targeted gene-panel sequencing is a useful diagnostic tool for DEE in children, and genotype-phenotype correlations are helpful in anticipating the clinical progression and treatment efficacy among these patients.
Full Text
https://www.sciencedirect.com/science/article/pii/S0920121117306150
DOI
10.1016/j.eplepsyres.2018.02.003
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
강훈철(Kang, Hoon Chul) ORCID logo https://orcid.org/0000-0002-3659-8847
고아라(Ko, A Ra)
김상우(Kim, Sangwoo) ORCID logo https://orcid.org/0000-0001-5356-0827
김세희(Kim, Se Hee) ORCID logo https://orcid.org/0000-0001-7773-1942
김흥동(Kim, Heung Dong) ORCID logo https://orcid.org/0000-0002-8031-7336
윤송이(Youn, Song Ee)
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
이준수(Lee, Joon Soo) ORCID logo https://orcid.org/0000-0001-9036-9343
최종락(Choi, Jong Rak) ORCID logo https://orcid.org/0000-0002-0608-2989
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/162030
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