A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series
This article reports a novel GLRB mutation in two neonates with autosomal recessive HKPX2, presenting with divergent EEG findings.
Authors
- Mariam Alqam (ORCID: https://orcid.org/0009-0000-3695-9705)
- Motaz Tamimi
- Mohammed Aldwaik
- Majd Oweidat (ORCID: https://orcid.org/0009-0009-2564-5781)
- Mohammed Alra’e (ORCID: https://orcid.org/0009-0000-3419-389X)
- Hamza Atawneh
- Bahaa Amr
- Mohammad Gharaibiah
Institutions
- Hebron University (PS)
- Al-Ahli Hospital (QA)
- Arab American University (PS)
Publication Details
- Journal
- Annals of Medicine and Surgery
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1097/ms9.0000000000003258
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 0.00