Genetic neonatal seizures in the neonatal intensive care unit: Diagnostic and prognostic implications for three families
WES facilitated the molecular diagnosis of neonatal seizures in the study participants. Variants in the KCNQ2 and MOCS1 genes were classified as likely pathogenic based on our findings. The individual with a duplication of the sodium channel gene cluster on 2q24.3 exhibited additional phenotypes. Our investigation expanded the genotype-phenotype spectrum.
Authors
- Yi Lü (ORCID: https://orcid.org/0000-0002-8766-3733)
- Xiaohua Zhang (ORCID: https://orcid.org/0000-0001-5053-3161)
- Rongrong Chen (ORCID: https://orcid.org/0000-0002-4489-4179)
- Xueqian Wang (ORCID: https://orcid.org/0000-0002-3189-361X)
- Huiming Wu
- Honggang Yin
Institutions
- Nantong University (CN)
- Nantong Maternity and Child Health Hospital (CN)
Publication Details
- Journal
- Epileptic Disorders
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1002/epd2.20315
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Nantong University