نتایج جستجو برای: dravet syndrome
تعداد نتایج: 621933 فیلتر نتایج به سال:
Dravet syndrome (DS) is a rare severe epilepsy associated with slowed psychomotor development and behavioral disorders from the second year onward in previously seemingly normal child. Among cognitive impairments, visuospatial, sensorimotor integration, expressive language deficits are consistently reported. There have been independent hypotheses to deconstruct typical DS (dorsal stream vulnera...
Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrom...
OBJECTIVE To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic s...
Goorhuis et al. add some very important information about the problem of medication-induced hepatotoxicity in children with Dravet syndrome. The girl they describe was treated with valproic acid, stiripentol and acetaminophen. Stiripentol is thought to prevent liver damage in acetaminophen intoxication. Stiripentol inhibits the synthesis of N-acetyl-pbenzoquinone-imine, a highly reactive acetam...
Zusammenfassung Hintergrund Das Dravet-Syndrom (DS) ist ein seltenes, in der frühen Kindheit beginnendes, therapierefraktäres Epilepsiesyndrom, das mit einer hohen Morbidität und Mortalität verbunden ist. Fragestellung Ziele Querschnittsstudie „Dravet syndrome caregiver survey“ (DISCUSS) sind die Identifizierung Beschreibung Faktoren, einen Einfluss auf Krankheitslast von Patienten DS ihre Betr...
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