نتایج جستجو برای: dravet syndrome
تعداد نتایج: 621933 فیلتر نتایج به سال:
Mutations in the voltage-gated sodium channel gene SCN1A are a major cause of severe myoclonic epilepsy of infancy (Dravet syndrome) and generalized epilepsy with febrile seizures plus. This study reports the identification of six de novo SCN1A mutations in patients with severe myoclonic epilepsy of infancy, including a tetranucleotide deletion in exon 26. The same deletion was previously obser...
In 1978, Charlotte Dravet described thècryptogenic' epilepsy syndrome severe myoclonic epilepsy of infancy (SMEI) (Dravet, 1978). This severe generalized epileptic encephalopathy begins at around 6 months of age with febrile hemiclonic or generalized status epilepticus. Hemiclonic status typically recurs involving each side independently. After 1 year of age, other seizure types appear includin...
Some studies have demonstrated that cognitive decline occurs in Dravet syndrome, starting shortly after the onset of seizures, rapidly progressing and then plateauing within a few years. It is unclear whether children that develop the syndrome had entirely normal cognitive skills before seizure onset, since subtle impairment easily escapes recognition in small infants. It is also difficult to d...
Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of neurodevelopmental disorders that collectively affect a significant percentage of the world population. Recent technological breakthroughs allowed the elucidation of the genetic causes of many of these disorders. As neurodevelopmental disorders are genetically heterogeneous, the development of rational therapy...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید