Syndrom Dravetové (těžká infantilní myoklonická epilepsie): charakteristiky onemocnění v dospělém věku
| Title in English | Dravet syndrome (severe myoclonic epilepsy of infancy – SMEI): characteristics of adulthood |
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| Authors | |
| Year of publication | 2017 |
| Type | Article in Periodical |
| Magazine / Source | Neurologie pro praxi |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | dravet syndrome; myoclonic epilepsy; adulthood; therapy |
| Description | Dravet syndrome (DS) is ranked among severe epileptic syndromes with occurence in the first year of life in normal children. It can be diagnosed according to the clinical course, genetics can be very helpful by assessing the mutation in SCN1A gene, which is responsible for 70–80 % of cases with DS. Other mutations were identified more rarely (SCN2A, SCN3A, SCN7A, SCN8A a SCN9A, GABARG2, SCN1B and PCDH19). Dravet syndrom in adulthood is characterised by cognitive and behavioral changes in patients with various rate of mental retardation, language deficit and cerebellar symptomatic. The course of epilepsy is milder, the rate of seizure freedom is still low. Patients often suffer from nocturnal partial complex seizures with secondary generalisation, often with frontal origin. Present possibilities of genetic confirmation of DS are very important from the therapeutical point of view. This allows to improve the prognosis of the disease and the quality of life of patients with DS. |