Dravet syndrome
ASESSMENT OF SCN1A, SCN2A, EPM2A GENE MUTATUION IN DRAVET SYNDROME EPILEPSY SEIZURE DISORDER, IN HUMAN, TABRIZ, IRAN
... Dravet syndrome spectrum disorders are rare genetic epileptic encephalopathies (dysfunction of the brain) with onset during the first year of life in an otherwise healthy ...to Dravet ...
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Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome
... Results: Short interval intracortical inhibition (SICI), which measures GABAergic inhibitory network behavior, was undetectable in Dravet syndrome, but detectable in all controls.. Other[r] ...
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Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases
... Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected ...
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Alleged Cases of Vaccine Encephalopathy Rediagnosed Years Later as Dravet Syndrome
... Although Dravet syndrome is rare, its recognition is important for pediatri- cians in the campaign for childhood immunizations, because it offers an al- ternative genetic explanation to refute alleged cases ...
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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
... with Dravet syndrome and immunoglobulin G subclasses deficiency treated with valproic acid, intravenous immuno- globulin, and vagal nerve stimulator,” Journal of Middle East and North Africa Sciences, ...
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Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.
... the Dravet syndrome (DS), also named severe myoclonic epilepsy of infancy (SMEI), as well as epileptic encephalopathy, partial epilepsy, generalized epilepsy, and febrile seizures (Meng et ...
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Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome
... Data on the efficacy and safety of cannabidiol (CBD) in various epilepsies are emerging. Randomized controlled trials have suggested that an orally administered pharmaceutical formulation of purified CBD as an add-on to ...
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Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome
... Background: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15 – 35% of the patients with epilepsy, more frequently in those with intellectual disability ...
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Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
... Dravet syndrome (DS) is a severe epilepsy presenting in the first year of life with clonic seizures triggered by fever, often unilateral and long lasting in a child with previously normal ...
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Double somatic mosaicism in a child with Dravet syndrome
... variants with 17.6% and 30.6% mosaic allele frequencies in blood respectively, while their nonmosaic offspring had Dravet syndrome. 2 In contrast to the milder phenotypes in the parents with mosaic variants ...
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Incidence of Dravet Syndrome in a US Population
... comprising nearly half of the insured population of Northern California. The study was approved by the institutional review boards at KPNC and the University of California, San Francisco. Patients with Dravet ...
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Dravet syndrome
... The SCN1A gene has a dominating role in the pathogene- sis of DS with over 100 different mutations. The majority of these mutations are de novo (88%) but several are recurrent [26]. These mutations are spread throughout ...
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A human Dravet syndrome model from patient induced pluripotent stem cells
... We next examined action potential generation in the current clamp configuration, using 10-ms depolarizing current injections from a holding potential of − 70-mV, and we found no statisti[r] ...
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Sudden unexpected death in a mouse model of Dravet syndrome
... Severe bradycardia and reduced R-wave amplitude were observed immediately preceding the death of F/+:Dlx-Cre+ mice during thermal seizure-induction experiments, and all F/+:Dlx-Cre+ mice[r] ...
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Severe peri ictal respiratory dysfunction is common in Dravet syndrome
... A variety of mechanisms have been proposed for SUDEP (1, 2, 4– 6), including cardiac arrhythmias (7–10), dysfunction of autonomic control (11–15), apnea/hypoventilation (3, 16–21), airway obstruction (22), pulmonary ...
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Child Neurology: Dravet syndromeWhen to suspect the diagnosis
... Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of ...
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Not all SCN1A epileptic encephalopathies are Dravet syndromeEarly profound Thr226Met phenotype
... from Dravet syndrome by sev- eral ...in Dravet syn- ...Dravet syndrome. Infantile movement disorders are not part of the Dravet phe- notype, whereas our patients have a ...
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Hunter Syndrome
... Hunter syndrome, with focusing on developing well- tolerated therapies that can cross the blood-brain barrier ...Hunter syndrome, have shown that ERT with a different formulation of idursulfase to that used ...
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Antiphospholipid syndrome
... Antiphospholipid syndrome (APS) is characterized by venous or arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL) (namely lupus anticoagulant (LA)), ...
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Turner’s Syndrome
... Turner’s syndrome are lack of breast development or amenorrhea, with elevated follicle-stimulating hormone levels by 14 years of age; and infertility in ...Turner’s syndrome include short stature, webbed ...
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