Publication details
Syndrom Dravetové: těžká myoklonická epilepsie v časném dětství - kazuistiky
| Title in English | Dravet Syndrome: Severe Myioclonic Epilepsy in Infancy - Case Report |
|---|---|
| Authors | |
| Year of publication | 2014 |
| Type | Article in Periodical |
| Magazine / Source | CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | Dravet syndrome; myoclonic epilepsy; epilepsy; therapy |
| Description | Dravet syndrome (DS) is classified as a rare progressive epileptic encephalopathy. Seizure onset is in the first year of lite in thus far normally developing children. Typically, prolonged generalised convulsive seizures occur. Subsequently, other types of seizures are seen, accompanied by deterioration of psychomotor development. At present, detection of a specific mutation may confirm the clinical syndrome. 70-80% of patients have mutation in SCN1A gene, 5% in PCDHJ9 gene. Rarely, mutations in the GABARG2 gene and SCN1B gene are detected. Forly diagnosis of DS is very important from the therapeutical point of view. Two case reports of patients with typical clinical course of DS and genetically detected mutation in SCN1A gene are presented. |