The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes

Seizure. 2024 Jan:114:53-56. doi: 10.1016/j.seizure.2023.11.020. Epub 2023 Nov 29.

Authors

Seok-Jin Lee¹, Ji-Hoon Na², Hyunjoo Lee¹, Young-Mock Lee¹

Affiliations

¹ Departments of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, , 211 Eonju-ro, Gangnam-gu, Seoul 135-720, Korea.
² Departments of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, , 211 Eonju-ro, Gangnam-gu, Seoul 135-720, Korea. Electronic address: jhnamd83@yuhs.ac.

PMID: 38043418
DOI: 10.1016/j.seizure.2023.11.020

No abstract available

Keywords: ASNS; ASNSD; Asparagine synthetase; Epilepsy of infancy with migrating focal seizures; Lennox-Gastaut syndrome; West syndrome.

Publication types

Case Reports

MeSH terms

Aspartate-Ammonia Ligase*
Child
Epilepsy* / genetics
Epileptic Syndromes*
Humans
Intellectual Disability*
Microcephaly*
Republic of Korea
Vietnam

Substances

Aspartate-Ammonia Ligase