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Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy
| Content Provider | Semantic Scholar |
|---|---|
| Author | Dilena, Robertino Striano, Pasquale Gennaro, Elena Bassi, Laura Fumagalli, Monica |
| Copyright Year | 2017 |
| Abstract | BACKGROUND Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction. PATIENT DESCRIPTION A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring. Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p.[Met1545Val]) in SCN2A. At two years and three months of age the patient is still seizure-free on carbamazepine, although a developmental delay is evident. CONCLUSIONS Sodium channel blockers represent the first-line treatment for confirmed or suspected SCN2A-related epileptic encephalopathies. In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment. Because of their rarity, collaborative studies are needed to delineate shared therapeutic protocols for EIEE based on the electro-clinical features and the presumed underlying genetic substrate. |
| Starting Page | 345 |
| Ending Page | 348 |
| Page Count | 4 |
| File Format | PDF HTM / HTML |
| DOI | 10.1016/j.braindev.2016.10.015 |
| Alternate Webpage(s) | https://api.elsevier.com/content/article/pii/S038776041630184X |
| Alternate Webpage(s) | https://www.sciencedirect.com/science/article/pii/S038776041630184X?dgcid=api_sd_search-api-endpoint |
| PubMed reference number | 27876397 |
| Alternate Webpage(s) | https://doi.org/10.1016/j.braindev.2016.10.015 |
| Journal | Medline |
| Volume Number | 39 |
| Journal | Brain and Development |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
