Dravet Syndrome: Severe Myoclonic Epilepsy in Infancy – Case Reports

Česká verzia

Authors: P. Danhofer ¹; O. Horák ¹; L. Fajkusová ²; J. Pavloušková ²; H. Ošlejšková ¹
Authors place of work: LF MU a FN Brno Klinika dětské neurologie, Centrum pro epilepsie Brno ¹; LF MU a FN Brno Centrum molekulární biologie a genové terapie Interní hematoonkologické kliniky ²
Published in the journal: Cesk Slov Neurol N 2014; 77/110(2): 243-246
Category: Case Report

Summary

Dravet syndrome (DS) is classified as a rare progressive epileptic encephalopathy. Seizure onset is in the first year of life 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 PCDH19 gene. Rarely, mutations in the GABARG2 gene and SCN1B gene are detected. Early 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.

Key words:
Dravet syndrome – myoclonic epilepsy – epilepsy – therapy

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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