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Dravet Syndrome

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https://www.readbyqxmd.com/read/28538134/trial-of-cannabidiol-for-drug-resistant-seizures-in-the-dravet-syndrome
#1
Orrin Devinsky, J Helen Cross, Linda Laux, Eric Marsh, Ian Miller, Rima Nabbout, Ingrid E Scheffer, Elizabeth A Thiele, Stephen Wright
BACKGROUND: The Dravet syndrome is a complex childhood epilepsy disorder that is associated with drug-resistant seizures and a high mortality rate. We studied cannabidiol for the treatment of drug-resistant seizures in the Dravet syndrome. METHODS: In this double-blind, placebo-controlled trial, we randomly assigned 120 children and young adults with the Dravet syndrome and drug-resistant seizures to receive either cannabidiol oral solution at a dose of 20 mg per kilogram of body weight per day or placebo, in addition to standard antiepileptic treatment...
May 25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28525652/determination-of-scn1a-genetic-variants-in-mexican-patients-with-refractory-epilepsy-and-dravet-syndrome
#2
R E Jiménez-Arredondo, A J L Brambila-Tapia, F M Mercado-Silva, M T Magaña-Torres, L E Figuera
Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of Mexican patients with DS and refractory epilepsy (RE). We recruited 24 Mexican patients (14 males and 10 females), of which 15 were diagnosed with RE and 9 were diagnosed with DS...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#3
S Roldan
INTRODUCTION: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy. AIMS: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment. DEVELOPMENT: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524223/-infantile-epileptic-encephalopathies-what-matters-is-genetics
#4
J J Garcia-Penas, M Jimenez-Legido
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#5
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28521067/antiepileptic-drugs-for-the-treatment-of-infants-with-severe-myoclonic-epilepsy
#6
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for which stiripentol (STP) has been recently licensed as add-on therapy. OBJECTIVES: To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) for patients with SMEI. SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group Specialized Register (20 December 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 20 December 2016), MEDLINE (Ovid, 1946 to 20 December 2016) and ClinicalTrials...
May 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28505490/heat-induced-temperature-dysregulation-and-seizures-in-dravet-syndrome-gefs-gabrg2-q390x-mice
#7
Timothy A Warner, Zhong Liu, Robert L Macdonald, Jing-Qiong Kang
It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. In patients, the onset of FS is likely due to the combined effect of temperature and inflammation in genetically vulnerable individuals because fever is often associated with infection. Much effort has been spent to understand the mechanisms underlying fever induction of seizures...
April 30, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28491900/screening-of-conventional-anticonvulsants-in-a-genetic-mouse-model-of-epilepsy
#8
Nicole A Hawkins, Lyndsey L Anderson, Tracy S Gertler, Linda Laux, Alfred L George, Jennifer A Kearney
OBJECTIVE: Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to treatment, highlighting the need for novel therapies. Conventional anticonvulsant screening relies predominantly on induced seizure models. However, these models may not be etiologically relevant for genetic epilepsies. Mutations in SCN1A are a common cause of Dravet Syndrome, a severe epileptic encephalopathy. Dravet syndrome typically begins in infancy with seizures provoked by fever and then progresses to include afebrile pleomorphic seizure types...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28490751/unexpected-efficacy-of-a-novel-sodium-channel-modulator-in-dravet-syndrome
#9
Lyndsey L Anderson, Nicole A Hawkins, Christopher H Thompson, Jennifer A Kearney, Alfred L George
Dravet syndrome, an epileptic encephalopathy affecting children, largely results from heterozygous loss-of-function mutations in the brain voltage-gated sodium channel gene SCN1A. Heterozygous Scn1a knockout (Scn1a (+/-)) mice recapitulate the severe epilepsy phenotype of Dravet syndrome and are an accepted animal model. Because clinical observations suggest conventional sodium channel blocking antiepileptic drugs may worsen the disease, we predicted the phenotype of Scn1a (+/-) mice would be exacerbated by GS967, a potent, unconventional sodium channel blocker...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28469861/dravet-syndrome-a-new-causative-scn1a-mutation
#10
Martin Poryo, Oriana Clasen, Barbara Oehl-Jaschkowitz, Alexander Christmann, Ludwig Gortner, Sascha Meyer
Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28460589/expanding-the-phenotypic-spectrum-of-gabrg2-variants-a-recurrent-gabrg2-missense-variant-associated-with-a-severe-phenotype
#11
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker, Sharyn Lincoln, David A Sweetser, Lauren C Briere, Chellamani Harini, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants...
May 2, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28441824/-clinical-and-neuroimaging-features-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#12
X J Tian, Y H Zhang, A J Liu, X L Yang, Q Zeng, Z X Yang, J T Ye, X Y Liu, Y W Jiang, X R Wu
Objective: To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS). Method: The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized. Result: Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28434133/stiripentol-in-the-management-of-epilepsy
#13
REVIEW
Katherine C Nickels, Elaine C Wirrell
Stiripentol is a structurally unique antiepileptic drug that has several possible mechanisms of action, including diverse effects on the gamma-aminobutyric acid (GABA)-A receptor and novel inhibition of lactate dehydrogenase. Because of its inhibition of several cytochrome P450 enzymes, it has extensive pharmacokinetic interactions, which often necessitates reduction in doses of certain co-therapies, particularly clobazam. Stiripentol also has a neuroprotective action, by reducing calcium-mediated neurotoxicity...
May 2017: CNS Drugs
https://www.readbyqxmd.com/read/28431772/low-glycemic-index-treatment-in-patients-with-drug-resistant-epilepsy
#14
Se Hee Kim, Hoon-Chul Kang, Eun Joo Lee, Joon Soo Lee, Heung Dong Kim
OBJECTIVE: Low glycemic index treatment (LGIT) is a newly developed dietary therapeutic option for epilepsy that is less restrictive than the ketogenic diet (KD). Our objective was to determine the efficacy and tolerability of LGIT. METHODS: From March 2014 to February 2015, 36 patients received LGIT at Severance Children's Hospital. One-year seizure outcomes and side effects were evaluated. RESULTS: A total of 36 patients were assessed. Fourteen were female...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28431364/the-humanistic-and-economic-burden-of-dravet-syndrome-on-caregivers-and-families-implications-for-future-research
#15
REVIEW
Mark P Jensen, Andreas Brunklaus, Liam Dorris, Sameer M Zuberi, Kelly G Knupp, Bradley S Galer, Arnold R Gammaitoni
We reviewed the current literature with respect to the humanistic and financial burdens of Dravet Syndrome (DS) on the caregivers of children with DS, in order to (1) identify key unanswered questions or gaps in knowledge that need to be addressed and then, based on these knowledge gaps, (2) propose a research agenda for the scientific community to address in the coming decade. The findings support the conclusion that caring for a child with DS is associated with significant humanistic burden and direct costs...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28428755/pharmacological-analysis-of-the-anti-epileptic-mechanisms-of-fenfluramine-in-scn1a-mutant-zebrafish
#16
Jo Sourbron, Ilse Smolders, Peter de Witte, Lieven Lagae
Dravet syndrome (DS) is a genetic encephalopathy that is characterized by severe seizures and prominent co-morbidities (e.g., physical, intellectual disabilities). More than 85% of the DS patients carry an SCN1A mutation (sodium channel, voltage gated, type I alpha subunit). Although numerous anti-epileptic drugs have entered the market since 1990, these drugs often fail to adequately control seizures in DS patients. Nonetheless, current clinical data shows significant seizure reduction in DS patients treated with the serotonergic (5-hydroxytryptamine, 5-HT) drug fenfluramine (FA)...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28402511/serotonergic-modulation-as-a-pharmacological-modality-in-the-treatment-of-dravet-syndrome
#17
Peter de Witte, Lieven Lagae
No abstract text is available yet for this article.
April 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28373025/early-life-febrile-seizures-worsen-adult-phenotypes-in-scn1a-mutants
#18
Stacey B B Dutton, Karoni Dutt, Ligia A Papale, Sandra Helmers, Alan L Goldin, Andrew Escayg
Mutations in the voltage-gated sodium channel (VGSC) gene SCN1A, encoding the Nav1.1 channel, are responsible for a number of epilepsy disorders including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS). Patients with SCN1A mutations often experience prolonged early-life febrile seizures (FSs), raising the possibility that these events may influence epileptogenesis and lead to more severe adult phenotypes. To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood...
April 1, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28356460/impaired-intracortical-inhibition-demonstrated-in-vivo-in-people-with-dravet-syndrome
#19
William M Stern, Josemir W Sander, John C Rothwell, Sanjay M Sisodiya
OBJECTIVE: Dravet syndrome is a rare neurodevelopmental disorder characterized by seizures and other neurologic problems. SCN1A mutations account for ∼80% of cases. Animal studies have implicated mutation-related dysregulated cortical inhibitory networks in its pathophysiology. We investigated such networks in people with the condition. METHODS: Transcranial magnetic stimulation using single and paired pulse paradigms was applied to people with Dravet syndrome and to 2 control groups to study motor cortex excitability...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#20
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
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 death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
March 22, 2017: Pediatrics
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