Naslov
The molecular analysis proved the diagnosis of Dravet syndrome before the clear clinical picture-case report

Autori
Cvitanović-Šojat, Ljerka ; Petrović, Dolores ; Lujić, Lucija ; Đuranović, Vlasta ; Delin, Sanja ; Kovač-Šižgorić, Matilda ; Sabol, Zlatko

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
VI. Hrvatski kongres humane genetike s međunarodnim sudjelovanjem, Split, 5.-7. studenoga 2015., Knjiga sažetaka / - , 2015, 30-30

Skup
VI. Hrvatski kongres humane genetike s međunarodnim sudjelovanjem, Split, 5.-7. studenoga 2015.

Mjesto i datum
Split, Hrvatska, 05.11.2015. - 07.11.2015

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
Dravet syndrome

Sažetak
Dravet syndrome (OS) is one of the most severe types of genetic epilepsy. At healthy, developmentally normal infant, convulsive status epilepticus, febrile or afebrile seizures occur at around 6 months of age, generally triggered by fever, illness or vaccination. OS is associated in >85 % of patients with anomalies of the gene SCN1A at chromosome 2q24, encoding the alpha-1 subunit of voltage gated sodium channel NaV 1.1. Mutations arise de novo in 90 % of OS. The boy was born from unrelated parents after the first uneventful pregnancy and delivery induced by oxytocin. The family history was positive for simple febrile seizures. At the age of 7 months and 9 days, after the IllrdDTaP-IPVHib- Hepatitis B vaccination, the first febrile seizures occurred. Tili the age of 24 months the boy had ten times febrile seizures, only once with duration of 55 minutes. After the second febrile seizures Phenobarbital was introduced, replacing by valproic acid after the fifth attack. At the age of 10.5 months the presence of the heterozygous c.5017de1A (p.lle1763Serfs*7) mutation in exon 26 of the SCN1A gene, not described before, demonstrating de novo mutation. Our boy aged now 27 months, with normal psychomotor development and EEG, had nine febrile seizures and one epileptic status. There were no suggestions about the introduction of the combination of stiripentol, valproic acid and clobazam, in order to avoid a status epilepticus in a future. Tili now he is receiving valproic acid because of recurring febrile seizures.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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