<i>KCNQ2</i> variants in neonatal onset of self-limiting epilepsy
Self-limited epilepsies with onset in neonates (SeLNE) are usually autosomal dominant disorders characterized by the neonatal onset of focal motor seizures and the absence of neurodevelopmental complications. <i>KCNQ2</i>, encoding a voltage-gated potassium channel subunit, K<sub>V</sub>7.2, is the most common gene associated with SeLNE. Careful history taking and a genetic diagnosis can help to make the correct therapeutic choices.
Authors
- Anthony R Hart (ORCID: https://orcid.org/0000-0003-4018-3238)
- Hannah K. Robinson (ORCID: https://orcid.org/0000-0003-4817-2111)
- Anne Greenough (ORCID: https://orcid.org/0000-0002-8672-5349)
- Shruthi Mundasad
Institutions
- King's College London (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- King's College Hospital NHS Foundation Trust (GB)
- King's College Hospital (GB)
Publication Details
- Journal
- Case Reports in Perinatal Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1515/crpm-2024-0039
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00