نتایج جستجو برای: scn1a
تعداد نتایج: 569 فیلتر نتایج به سال:
I t was pointed out by Osterhout I that substances which increase the electrical conductivity of tissues are antagonized by those which decrease it. An illustration of this is seen in antagonism between NaC1 (which increases conductivity) and Na taurocholate ~ (which decreases it). This case has additional interest as an example of antagonism between anions as well as of antagonism between orga...
OBJECTIVE To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the...
Fever-associated syndromic epilepsies ranging from febrile seizures plus (FS+) to Dravet syndrome have a significant genetic component. However, apart from SCN1A mutations in >80% of patients with Dravet syndrome, the genetic underpinnings of these epilepsies remain largely unknown. Therefore, we performed a genome-wide screening for copy number variations (CNVs) in 36 patients with SCN1A-negat...
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequen...
The human sodium channel family includes seven neuronal channels that are essential for the initiation and propagation of action potentials in the CNS and PNS. In view of their critical role in neuronal firing and their strong sequence conservation during evolution, it is not surprising that mutations in the sodium channel genes are responsible for a growing spectrum of channelopathies. Nearly ...
Dravet syndrome is a severe infantile-onset epilepsy syndrome with a distinctive but complex electroclinical presentation. A healthy, developmentally normal infant presents at around 6 months of age with convulsive status epilepticus, which may be hemiclonic or generalized; seizures may be triggered by fever, illness or vaccination. The infant typically has further episodes of status epilepticu...
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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