نتایج جستجو برای: scn1a
تعداد نتایج: 569 فیلتر نتایج به سال:
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including three adult post-mortem cases with Dravet syndrome. For all patients, we reviewed the clinical history, seizure types and frequency, antiepileptic...
Using a rotating vitreous carbon disk electrode, the kinetic parameters for chlorine reduction in an AlCl3 KCl-NaC1 (57.5-12.5-30 mol g%) melt were determined. It was found that the reduction of chlorine occurs according to the paths: C1 2 + e C1 + Clad s ads with the first step being most probably rate determining. The apparent exchange currents were (1 ± 0.15)10 -4A/cm 2 at 130 °C and (2.1 ± ...
During the process of death the electrical conductivity of many tissues undergoes a change in electrical resistance by means of which the process may be followed with considerable precision. This may be utilized to measure injury and recovery. 1 An illustration of this is seen in Fig. 1, which shows the gradual fall in resistance 2 of Lamlnaria placed in 0.52 ~t NaC1. 8 After an exposure of 5.2...
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treat...
The wave forms and activity patterns of Caenorhabditis elegans were examined on agar in the presence of known chemical attractants (NaCl) and repellents (D-tryptophan), and in thermal gradients. Total activity was reduced in both attractants and repellents. Different combinations of transfers between chemicals were investigated. Two thresholds were found for NaCl: 10(-3) M NaC1 caused reduced a...
BACKGROUND Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological features in a large cohort of DS patients and its relationships with epileps...
PURPOSE To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). MATERIAL AND METHODS Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. Th...
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