Dravet’s syndrome – previously known as severe myoclonic epilepsy in infancy, is classifi ed as epilepsy on a genetic basis (1). 70–80 % of the patients with the Dravet’s syndrome phenotype are associated with the detection of a sequence variant in the SCN1A gene (alpha 1 subunit of the voltage-gated sodium channel) (2). However, sequence variants in the SCN1A gene are associated with a very broad clinical spectrum, from asymptomatic carriers to the severe myoclonic epilepsy phenotype with severe disease (3). In the presented work, we retrospectively evaluated a group of 6 patients of the Department of Pediatric Neurology of the Medical Faculty of Masaryk University and the University Hospital in Brno with a proven missense mutation. Based on the specifi c pathogenic sequence variant, we correlated the patient’s phenotype with the location of the sequence variant in the SCN1A gene. The aim of the analysis was to verify the extent, to which the storage of a pathogenic sequence variant in the SCN1A gene corresponds to the clinical picture of the patient (Tab. 2, Fig. 2, Ref. 10).

Department of Paediatric Neurology Faculty of Medicine Masaryk University and University Hospital Brno Brno Epilepsy Centre Czech Republic

Ondřej Slabý Research Group CEITEC Brno Czech Republic

Literatura

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$a Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome) / $c Katarina Ceska, Pavlina Danhofer, Ondrej Horak, Klara Spanelova, Senad Kolar, Hana Oslejskova, Stefania Aulicka

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$a Dravet’s syndrome – previously known as severe myoclonic epilepsy in infancy, is classifi ed as epilepsy on a genetic basis (1). 70–80 % of the patients with the Dravet’s syndrome phenotype are associated with the detection of a sequence variant in the SCN1A gene (alpha 1 subunit of the voltage-gated sodium channel) (2). However, sequence variants in the SCN1A gene are associated with a very broad clinical spectrum, from asymptomatic carriers to the severe myoclonic epilepsy phenotype with severe disease (3). In the presented work, we retrospectively evaluated a group of 6 patients of the Department of Pediatric Neurology of the Medical Faculty of Masaryk University and the University Hospital in Brno with a proven missense mutation. Based on the specifi c pathogenic sequence variant, we correlated the patient’s phenotype with the location of the sequence variant in the SCN1A gene. The aim of the analysis was to verify the extent, to which the storage of a pathogenic sequence variant in the SCN1A gene corresponds to the clinical picture of the patient (Tab. 2, Fig. 2, Ref. 10).

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