Ann Child Neurol.
2019 Mar;27(1):2-12. 10.26815/acn.2019.00066.
Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine
- Affiliations
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- 1Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.
- 2Division of Pediatric Neurology, Epilepsy Research Institute, Severance Children's Hospital and Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. hipo0208@yuhs.ac
- KMID: 2449920
- DOI: http://doi.org/10.26815/acn.2019.00066
Abstract
- In this article, we reviewed current knowledge regarding gene-specific therapies for some developmental and epileptic encephalopathy caused by genes with high diagnostic yields, and which are therefore, also more frequently encountered by physicians during treatment, including ALDH7A1, CDKL5, KCNQ2, KCNT1, SCN2A, SCN8A, STXBP1, and SYNGAP1. Among these therapies, the ones directly targeting causative mutations are retigabine in KCNQ2 encephalopathy and quinidine in KCNT1 encephalopathy. However, despite promising results in vitro, the outcomes related to these therapies were disappointing when administered to patients. Considering the pathologic mechanisms of causative mutations, sodium channel blockers are recommended for patients with KCNQ2 mutations, infantile epileptic encephalopathy patients with SCN2A mutations, and patients with SCN8A mutations. Levetiracetam can be considered for patients with STXBP1 mutations.
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