نتایج جستجو برای: dravet syndrome
تعداد نتایج: 621933 فیلتر نتایج به سال:
ObjectivesTo describe and quantify the nature severity of sleep disruptions in young people with Dravet syndrome (DS) based upon parent report.MethodsQualitative review available pediatric instruments members Foundation led to design a series questions customized DS other severe epilepsies. The questionnaire was administered as part an on-line survey that reflected specific sleep-related concer...
The comprehensive care of a patient with Dravet syndrome encompasses both the "care" and the "cure" of the patient, and requires cooperation among family, doctors, and several other specialized caregivers to search for the attainment of the best quality of life for the patients and their families. Several issues peculiar to the disease to be faced while dealing with the patient are: (1) SMEI is...
Few studies focused on the long-term outcome of Dravet syndrome in adulthood are available in the literature, but all are concordant. In this article, we consider the outcomes of 24 patients followed at the Centre Saint-Paul, Marseille, up to the age of 50, and compare them to the patients reported in the literature. Five patients (20.8%) died, at a mean age of 24.8 years, one by status epilept...
1. Chan E. Thrombolytic service of acute ischaemic stroke in Hong Kong. Hong Kong Med J 2012;18:170. 2. Lau AY, Soo YO, Graham CA, et al. An expedited stroke triage pathway: the key to shortening the door-to-needle time in delivery of thrombolysis. Hong Kong Med J 2010;16:455-62. 3. Cheung NK, Yeung JH, Chan JT, Cameron PA, Graham CA, Rainer TH. Primary trauma diversion: initial experience in H...
Neurological and psychiatric syndromes often have multiple disease traits, yet it is unknown how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the voltage-gated sodium channel Nav1.1 causes Dravet syndrome, an intractable childhood-onset epilepsy with hyperactivity, cognitive deficit, autistic-like behaviours, and premature death. Deletion of Nav1.1 channels sel...
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were scre...
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