| H01818 | |
| H number | H01818 |
| Name | Dravet syndrome |
| Description | The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene. |
| Category | Nervous system disease |
| Network | - |
| Gene | SCN1A [HSA:6323] [KO:K04833] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Fenfluramine hydrochloride [DR:D04148] Stiripentol [DR:D05928] Cannabidiol [DR:D10915] |
| Comment | See also H00606 Early infantile epileptic encephalopathy. |
| Other DBs | ICD-11: 8A61.11 ICD-10: G40.4 MeSH: D004831 OMIM: 607208 |
| Reference | PMID:21463272 AUTHORS Dravet C TITLE The core Dravet syndrome phenotype. JOURNAL Epilepsia 52 Suppl 2:3-9 (2011) DOI:10.1111/j.1528-1167.2011.02994.x PMID:19589774 AUTHORS Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC TITLE De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. JOURNAL J Med Genet 47:137-41 (2010) DOI:10.1136/jmg.2008.065912 PMID:18424028 AUTHORS Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K TITLE Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan. JOURNAL Brain Dev 30:629-35 (2008) DOI:10.1016/j.braindev.2008.03.002 |