Abstract
Background: Oculogyric crises have been less commonly reported in KCNQ2-related disorders. This case report aims to illustrate the clinical variability of KCNQ2-related disorders and emphasize the importance of genetic diagnostics in neonatal epilepsy. Objective: To present a unique case of self-limited familial neonatal epilepsy associated with an inherited KCNQ2 mutation, highlighting the occurrence of oculogyric crises. Methods: Clinical evaluation, electroencephalography, magnetic resonance imaging, and genetic testing via whole-exome sequencing was utilized. Results: A female infant exhibited early-onset seizures and atypical oculogyric crises. Genetic analysis revealed a pathogenic KCNQ2 duplication inherited from the mother. Treatment with valproic acid led to seizure control, and follow-up demonstrated normal psychomotor development. Conclusion: This case underscores the phenotypic variability of KCNQ2-related disorders and the role of genetic testing in refining diagnosis and management.
| Original language | English |
|---|---|
| Article number | 100215 |
| Journal | Brain Disorders |
| Volume | 18 |
| DOIs | |
| Publication status | Published - Jun 2025 |
| Externally published | Yes |
Keywords*
- early-onset motor seizures
- KCNQ2 mutation
- neonatal epilepsy
- oculogyric crises
- self-limited familial neonatal epilepsy
- whole-exome genetic testing
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 1.1. Scientific article indexed in Web of Science and/or Scopus database
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