Publication details

Syndrom Dravetové: těžká myoklonická epilepsie v časném dětství

Title in English Dravet syndrome: severe myoclonic epilepsy in infancy
Authors

DANHOFER Pavlína HORÁK Ondřej FAJKUSOVÁ Lenka PAVLOUŠKOVÁ Jana OŠLEJŠKOVÁ Hana

Year of publication 2015
Type Article in Periodical
Magazine / Source Neurologie pro praxi
MU Faculty or unit

Faculty of Medicine

Citation
Field Neurology, neurosurgery, neurosciences
Keywords Dravet syndrome; therapy
Description Dravet syndrome is classified as a rare progressive epileptic encephalopathy. Seizure onset starts in the first year of life in so far normal developped children. Generalised or lateralized clonic-tonic seizures, often prolonged and during the febrile infect can be observed. Later on, we can see other types of seizures accompanied by deterioration of psychomotor development. In present, the genetic basis of this syndrom with mutations in SCN1A gene can be detected in 70–80 % of patients. 5 % of patients have mutation in PCDH19 gene, rarely the mutations in GABARG2 and SCN1B genes can be detected. Beneficial effect in the therapy of DS is observed in valproic acid, clobazame and as add-on therapy stiripentol. Topiramat, levetiracetam and ketogenic diet can also bring a positive effect in the seizure reduction. Early diagnostics of DS is very important from the therapeutical point of view.

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