نتایج جستجو برای: dravet syndrome
تعداد نتایج: 621933 فیلتر نتایج به سال:
Haploinsufficiency of the voltage-gated sodium channel NaV1.1 causes Dravet syndrome, an intractable developmental epilepsy syndrome with seizure onset in the first year of life. Specific heterozygous deletion of NaV1.1 in forebrain GABAergic-inhibitory neurons is sufficient to cause all the manifestations of Dravet syndrome in mice, but the physiological roles of specific subtypes of GABAergic...
Epilepsies can be caused by specific genetic anomalies or by non-genetic factors, but in many cases the underlying cause is unknown. Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in patients with Dravet syndrome and with generalized epilepsy with febrile seizures plus (GEFS+). In this paper we report a patient presenting with ...
Background: Cannabidiol (CBD) is a non-psychoactive substance of Cannabis sativa effective in refractory epilepsy due to Dravet syndrome, Lennox-Gastaut syndrome and Tuberous Sclerosis Complex, with few studies other etiologies. There are that show benefit the mutual use clobazam CBD.
A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid, p.N641Y, in the large cytoplasmic loop between transmembrane domains I and II that was absent from 586 ethnically matched population control ch...
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the disease. We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analysed demogra...
PURPOSE To review the efficacy and tolerability of stiripentol in the treatment of U.S. children with Dravet syndrome. METHODS U.S. clinicians who had prescribed stiripentol for two or more children with Dravet syndrome between March 2005 and 2012 were contacted to request participation in this retrospective study. Data collected included overall seizure frequency, frequency of prolonged seiz...
Investigators from the University of California, San Francisco and Kaiser Permanente report the incidence of Dravet Syndrome in a population based cohort.
Commentary Imagine you have an adorable baby, the birth went well, and he/she is developing nicely; laughing, smiling, making eye contact, and playing. You are worried because you heard about complications from immunizations, but your pediatri-cian reassures you. In fact, all of your friends have immunized their children without problem. After the injection, your baby has a fever and experience...
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