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Dravet Syndrome

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https://www.readbyqxmd.com/read/29770251/review-of-the-neurological-benefits-of-phytocannabinoids
#1
REVIEW
Joseph Maroon, Jeff Bost
Background: Numerous physical, psychological, and emotional benefits have been attributed to marijuana since its first reported use in 2,600 BC in a Chinese pharmacopoeia. The phytocannabinoids, cannabidiol (CBD), and delta-9-tetrahydrocannabinol (Δ9-THC) are the most studied extracts from cannabis sativa subspecies hemp and marijuana. CBD and Δ9-THC interact uniquely with the endocannabinoid system (ECS). Through direct and indirect actions, intrinsic endocannabinoids and plant-based phytocannabinoids modulate and influence a variety of physiological systems influenced by the ECS...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#2
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29761351/economic-evaluation-of-stiripentol-for-dravet-syndrome-a-cost-utility-analysis
#3
Jesse Elliott, Bláthnaid McCoy, Tammy Clifford, George A Wells, Doug Coyle
BACKGROUND: Dravet syndrome is a catastrophic form of pediatric treatment-resistant epilepsy with few effective treatment options. Stiripentol is approved for use in Canada for treatment of Dravet syndrome, but the associated long-term costs and benefits have not been well-studied and its cost effectiveness is unclear. OBJECTIVE: The aim of this study was to evaluate the cost effectiveness of stiripentol as an adjunctive treatment to clobazam and valproate for treatment of Dravet syndrome from the perspective of the Canadian public healthcare payer...
May 15, 2018: PharmacoEconomics
https://www.readbyqxmd.com/read/29761022/ketogenic-diet-effects-on-52-children-with-pharmacoresistant-epileptic-encephalopathy-a-clinical-prospective-study
#4
Qiong Wu, Hua Wang, Yu Ying Fan, Jun Mei Zhang, Xue Yan Liu, Xiu Ying Fang, Feng Hua Yang, Qing Jun Cao, Ying Qi
Objective: To evaluate the clinical impact of ketogenic diet (KD) on children with pharmacoresistant epileptic encephalopathy. Methods: In all, 52 children with pharmacoresistant epileptic encephalopathy that diagnosed in our hospital from July 2012 to June 2015 were selected, including West syndrome 38 cases, Lennox-Gastaut Syndrome 7 cases, Doose Syndrome 1 case, and Dravet syndrome 6 cases, and the effect, compliance, adverse reactions, electroencephalogram (EEG), and cognitive function were analyzed...
May 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29753345/the-problem-of-rarity-estimation-of-prevalence-in-rare-disease
#5
Stéphane Auvin, John Irwin, Paul Abi-Aad, Alysia Battersby
BACKGROUND: From a disease's first description to its wider recognition, factors such as changes over time in diagnostic criteria, available therapies, and subsequent mortality rates may influence diagnosed prevalence of rare diseases. OBJECTIVES: To propose a novel methodology for estimating the true prevalence of rare diseases using current incidence adjusted to changing diagnostic practice over time. This article focuses on rare diseases whose diagnosis may have changed over time, and raises the hypothesis that prevalence calculated from current incidence may be higher than diagnosed prevalence, which may lag behind the current disease definition and diagnostic methods...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29750338/influence-of-contraindicated-medication-use-on-cognitive-outcome-in-dravet-syndrome-and-age-at-first-afebrile-seizure-as-a-clinical-predictor-in-scn1a-related-seizure-phenotypes
#6
Iris M de Lange, Boudewijn Gunning, Anja C M Sonsma, Lisette van Gemert, Marjan van Kempen, Nienke E Verbeek, Joost Nicolai, Nine V A M Knoers, Bobby P C Koeleman, Eva H Brilstra
OBJECTIVE: Pathogenic variants in SCN1A can give rise to extremely variable disease severities that may be indistinguishable at their first presentation. We aim to find clinical features that can help predict the evolution of seizures into Dravet syndrome and clinical features that predict cognitive outcome in Dravet syndrome. We specifically investigate the role of contraindicated medication (CIM) as a possible modifier of cognitive decline. METHODS: A cohort of 164 Dutch participants with SCN1A-related seizures was evaluated...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29747241/stiripentol-add-on-therapy-for-focal-refractory-epilepsy
#7
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the Cochrane review last published in 2015 (Issue 10). For nearly 30% of people with epilepsy, seizures are not controlled by current treatments. Stiripentol is a new antiepileptic drug (AED) that was developed in France and was approved by the European Medicines Agency (EMA) in 2007 for the treatment of Dravet syndrome as an adjunctive therapy with valproate and clobazam, with promising effects. OBJECTIVES: To evaluate the efficacy and tolerability of stiripentol as add-on treatment for people with focal refractory epilepsy who are taking AEDs...
May 10, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29740331/voltage-gated-sodium-channel-%C3%AE-1-%C3%AE-1b-subunits-regulate-cardiac-physiology-and-pathophysiology
#8
REVIEW
Nnamdi Edokobi, Lori L Isom
Cardiac myocyte contraction is initiated by a set of intricately orchestrated electrical impulses, collectively known as action potentials (APs). Voltage-gated sodium channels (NaV s) are responsible for the upstroke and propagation of APs in excitable cells, including cardiomyocytes. NaV s consist of a single, pore-forming α subunit and two different β subunits. The β subunits are multifunctional cell adhesion molecules and channel modulators that have cell type and subcellular domain specific functional effects...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29740280/common-ribs-of-inhibitory-synaptic-dysfunction-in-the-umbrella-of-neurodevelopmental-disorders
#9
REVIEW
Rachel Ali Rodriguez, Christina Joya, Rochelle M Hines
The term neurodevelopmental disorder (NDD) is an umbrella term used to group together a heterogeneous class of disorders characterized by disruption in cognition, emotion, and behavior, early in the developmental timescale. These disorders are heterogeneous, yet they share common behavioral symptomatology as well as overlapping genetic contributors, including proteins involved in the formation, specialization, and function of synaptic connections. Advances may arise from bridging the current knowledge on synapse related factors indicated from both human studies in NDD populations, and in animal models...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29692967/can-the-combination-of-hyperthermia-seizures-and-ion-channel-dysfunction-cause-fatal-post-ictal-cerebral-edema-in-patients-with-scn1a-mutations
#10
Carina Büren, Marcel Alexander Kamp, Christopher Munoz-Bendix, Hans-Jakob Steiger, Joachim Windolf, Maxine Dibué-Adjei
A 21-year-old male with an SCN1A mutation died of cerebral herniation 3 h after a seizure occurring during physical activity. Cases of fatal cerebral edema in patients with SCN1A mutations after fever and status epilepticus have been recently reported raising the question whether sodium channel dysfunction may contribute to cerebral edema and thereby contribute to the increased premature mortality in Dravet Syndrome. We report on our patient and discuss whether the combination of hyperthermia and ion channel dysfunction may not only trigger seizures but also a fatal pathophysiological cascade of cerebral edema and herniation leading to cardiorespiratory collapse...
2018: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29661262/the-genetics-and-molecular-biology-of-fever-associated-seizures-or-epilepsy
#11
Hao Deng, Wen Zheng, Zhi Song
Fever-associated seizures or epilepsy (FASE) is primarily characterised by the occurrence of a seizure or epilepsy usually accompanied by a fever. It is common in infants and children, and generally includes febrile seizures (FS), febrile seizures plus (FS+), Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFSP). The aetiology of FASE is unclear. Genetic factors may play crucial roles in FASE. Mutations in certain genes may cause a wide spectrum of phenotypical overlap ranging from isolated FS, FS+ and GEFSP to DS...
April 17, 2018: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/29643753/reefer-to-the-rescue-the-dope-on-cannabidiol-as-a-multi-symptom-panacea-for-dravet-syndrome
#12
Akshay Gupta, Viji Santhakumar
No abstract text is available yet for this article.
March 2018: Epilepsy Currents
https://www.readbyqxmd.com/read/29610033/ketogenic-diet-therapy-in-infants-efficacy-and-tolerability
#13
Elaine Wirrell, Susan Eckert, Lily Wong-Kisiel, Eric Payne, Katherine Nickels
PURPOSE: This study evaluated tolerability and efficacy of the ketogenic diet in infants less than 12 months of age. METHODS: Infants <12 months of age, commencing the ketogenic diet between September 2007 and July 2016 were identified. Records were reviewed for epilepsy details, diet initiation details, efficacy and tolerability. RESULTS: Twenty-seven infants commenced the ketogenic diet (56% male, median age seven months). Median age at seizure onset was 1...
January 31, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29608654/the-ventrolateral-medulla-and-medullary-raphe-in-sudden-unexpected-death-in-epilepsy
#14
Smriti Patodia, Alyma Somani, Megan O'Hare, Ranjana Venkateswaran, Joan Liu, Zuzanna Michalak, Matthew Ellis, Ingrid E Scheffer, Beate Diehl, Sanjay M Sisodiya, Maria Thom
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in patients with epilepsy. One hypothesis proposes that sudden death is mediated by post-ictal central respiratory depression, which could relate to underlying pathology in key respiratory nuclei and/or their neuromodulators. Our aim was to investigate neuronal populations in the ventrolateral medulla (which includes the putative human pre-Bötzinger complex) and the medullary raphe. Forty brainstems were studied comprising four groups: 14 SUDEP, six epilepsy controls, seven Dravet syndrome cases and 13 non-epilepsy controls...
March 28, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#15
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29594870/treatment-strategies-for-dravet-syndrome
#16
REVIEW
Kelly G Knupp, Elaine C Wirrell
Dravet syndrome (DS) is a medically refractory epilepsy that onsets in the first year of life with prolonged seizures, often triggered by fever. Over time, patients develop other seizure types (myoclonic, atypical absences, drops), intellectual disability, crouch gait and other co-morbidities (sleep problems, autonomic dysfunction). Complete seizure control is generally not achievable with current therapies, and the goals of treatment are to balance reduction of seizure burden with adverse effects of therapies...
March 28, 2018: CNS Drugs
https://www.readbyqxmd.com/read/29573403/the-clinical-outcome-and-neuroimaging-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#17
Xiaojuan Tian, Jintang Ye, Qi Zeng, Jing Zhang, Xiaoling Yang, Aijie Liu, Zhixian Yang, Xiaoyan Liu, Xiru Wu, Yuehua Zhang
AIM: To analyze the clinical outcome and neuroimaging over a long duration follow-up in the currently largest series of acute encephalopathy after status epilepticus in patients with Dravet syndrome. METHOD: Clinical and neuroimaging data of patients with Dravet syndrome with a history of acute encephalopathy (coma >24h) after status epilepticus from February 2005 to December 2016 at Peking University First Hospital were reviewed retrospectively. RESULTS: Thirty-five patients (15 males, 20 females) with a history of acute encephalopathy were enrolled from a total of 624 patients with Dravet syndrome (5...
March 24, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29571173/seizure-freedom-in-patients-with-dravet-syndrome-with-contraceptives-a-case-report-with-two-patients
#18
Jan Lotte, Stefan Grothe, Gerhard Josef Kluger
Dravet syndrome is a rare and malignant epileptic syndrome that is typically resistant to antiepileptic drugs. There is a growing interest in the antiepileptic properties of neurosteroids. Especially progesterone is known to act as an anticonvulsive agent. However, contraceptives that act as orally given neurosteroids often lead to increased seizures in women with epilepsy.We report on two girls with Dravet syndrome, who gained seizure freedom under therapy with contraceptives. The first patient received an oral contraceptive, a combination of an estrogen, and a gestagen, due to hypermenorrhea...
March 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29558884/few-individuals-with-lennox-gastaut-syndrome-have-autism-spectrum-disorder-a-comparison-with-dravet-syndrome
#19
Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao
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 (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS...
March 20, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29540584/randomized-dose-ranging-safety-trial-of-cannabidiol-in-dravet-syndrome
#20
Orrin Devinsky, Anup D Patel, Elizabeth A Thiele, Matthew H Wong, Richard Appleton, Cynthia L Harden, Sam Greenwood, Gilmour Morrison, Kenneth Sommerville
OBJECTIVE: To evaluate the safety and preliminary pharmacokinetics of a pharmaceutical formulation of purified cannabidiol (CBD) in children with Dravet syndrome. METHODS: Patients aged 4-10 years were randomized 4:1 to CBD (5, 10, or 20 mg/kg/d) or placebo taken twice daily. The double-blind trial comprised 4-week baseline, 3-week treatment (including titration), 10-day taper, and 4-week follow-up periods. Completers could continue in an open-label extension. Multiple pharmacokinetic blood samples were taken on the first day of dosing and at end of treatment for measurement of CBD, its metabolites 6-OH-CBD, 7-OH-CBD, and 7-COOH-CBD, and antiepileptic drugs (AEDs; clobazam and metabolite N -desmethylclobazam [N-CLB], valproate, levetiracetam, topiramate, and stiripentol)...
April 3, 2018: Neurology
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