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The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes
- Authors
- Seok-Jin Lee ; Ji-Hoon Na ; Hyunjoo Lee ; Young-Mock Lee
- Citation
- SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, Vol.114 : 53-56, 2024-01
- Journal Title
- SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- ISSN
- 1059-1311
- Issue Date
- 2024-01
- MeSH
- Aspartate-Ammonia Ligase* ; Child ; Epilepsy* / genetics ; Epileptic Syndromes* ; Humans ; Intellectual Disability* ; Microcephaly* ; Republic of Korea ; Vietnam
- Keywords
- ASNS ; ASNSD ; Asparagine synthetase ; Epilepsy of infancy with migrating focal seizures ; Lennox-Gastaut syndrome ; West syndrom
- Appears in Collections:
- 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
- Yonsei Authors
-
Na, Ji Hoon(나지훈)
https://orcid.org/0000-0002-3051-2010
Lee, Seok-Jin(이석진)
Lee, Young Mock(이영목) https://orcid.org/0000-0002-5838-249X
Lee, Hyun Joo(이현주) https://orcid.org/0000-0002-1432-0449
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