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Article

SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.

American journal of medical genetics. Part A - 1 Aug 2024

Kim Hye Jin, Kim Minhye, Jang Seoyun, Cho Jae So, Kim Soo Yeon, Cho Anna, Kim Hunmin, Lim Byung Chan, Chae Jong-Hee, Choi Jieun, Kim Ki Joong, Kim WooJoong

Abstract excerpt

The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels and whole-exome sequencing. All patients exhibited global developmental...

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PMID: 38563110
DOI: 10.1002/ajmg.a.63606

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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