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https://www.readbyqxmd.com/read/28094541/intestinal-proportion-of-blautia-sp-is-associated-with-clinical-stage-and-histoprognostic-grade-in-patients-with-early-stage-breast-cancer
#1
Trang H Luu, Catherine Michel, Jean-Marie Bard, François Dravet, Hassan Nazih, Christine Bobin-Dubigeon
Improving knowledge about breast cancer etiology is crucial in order to propose prevention strategies for this pathology. Gut microbiota is involved in numerous physiopathological situations including cancers. Although its potential involvement in breast cancer through the alteration of the enterohepatic circulation of estrogens and/or the metabolism of phytoestrogens has been discussed for some time, it remains to be demonstrated. The present study seeks to strengthen this hypothesis by identifying possible links between the fecal microbiota composition and clinical characteristics in breast cancer patients...
January 17, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28081475/add-on-stiripentol-elevates-serum-valproate-levels-in-patients-with-or-without-concomitant-topiramate-therapy
#2
Toshihiro Jogamoto, Yoshiaki Yamamoto, Mitsumasa Fukuda, Yuka Suzuki, Katsumi Imai, Yukitoshi Takahashi, Yushi Inoue, Yoko Ohtsuka
OBJECTIVE: Stiripentol (STP), valproate (VPA) and topiramate (TPM) are reported to have efficacy for Dravet syndrome. In this study, we sought to elucidate the mechanisms underlying the increased serum VPA concentrations following STP adjunctive therapy in patients with Dravet syndrome. METHODS: Twenty-eight patients with Dravet syndrome (age range, 1-35 years) undergoing combination therapy with VPA and STP were included in this study. We evaluated VPA and clobazam (CLB) serum concentrations before and after add-on STP...
December 26, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28079431/vagus-nerve-stimulation-in-intractable-epilepsy-associated-with-scn1a-gene-abnormalities
#3
Stephen P Fulton, Kate Van Poppel, Amy L McGregor, Basanagoud Mudigoudar, James W Wheless
Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy-Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28079314/scn1a-gene-mutation-and-adaptive-functioning-in-18-vietnamese-children-with-dravet-syndrome
#4
Thi Thu Hang Do, Diem My Vu, Thi Thuy Kieu Huynh, Thi Khanh Van Le, Eun Hwa Sohn, Thieu Mai Thao Le, Huu Hao Ha, Chi Bao Bui
BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS: Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#5
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28042998/photosensitivity-in-dravet-syndrome-is-under-recognized-and-related-to-prognosis
#6
Nienke Verbeek, Dorothée Kasteleijn-Nolst Trenité, Merel Wassenaar, Jolien van Campen, Anja Sonsma, W Boudewijn Gunning, Al de Weerd, Nine Knoers, Willy Spetgens, Thea Gutter, Frans Leijten, Eva Brilstra
OBJECTIVE: To detect determinants for photoparoxysmal EEG response (PPR) in SCN1A-related Dravet syndrome (DS). METHODS: Data were studied from nationwide medical histories and EEGs of DS-patients (n=53; 31 males, age 2-19years). Detailed questionnaires on visual stimuli were completed by parents (n=49). RESULTS: PPR was found in 22 patients (42%; median age 1.25yr), and repeatedly in 17%. PPR (17% of 249 intermittent photic stimulation (IPS)-EEGs) occurred more often with optimal IPS protocols (OR 2...
December 6, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28012175/clinical-implications-of-scn1a-missense-and-truncation-variants-in-a-large-japanese-cohort-with-dravet-syndrome
#7
Atsushi Ishii, Joseph C Watkins, Debbie Chen, Shinichi Hirose, Michael F Hammer
OBJECTIVE: Two major classes of SCN1A variants are associated with Dravet syndrome (DS): those that result in haploinsufficiency (truncating) and those that result in an amino acid substitution (missense). The aim of this retrospective study was to describe the first large cohort of Japanese patients with SCN1A mutation-positive DS (n = 285), and investigate the relationship between variant (type and position) and clinical expression and response to treatment. METHODS: We sequenced all exons and intron-exon boundaries of SCN1A in our cohort, investigated differences in the distribution of truncating and missense variants, tested for associations between variant type and phenotype, and compared these patterns with those of cohorts with milder epilepsy and healthy individuals...
December 24, 2016: Epilepsia
https://www.readbyqxmd.com/read/27955713/rare-and-common-epilepsies-converge-on-a-shared-gene-regulatory-network-providing-opportunities-for-novel-antiepileptic-drug-discovery
#8
Andree Delahaye-Duriez, Prashant Srivastava, Kirill Shkura, Sarah R Langley, Liisi Laaniste, Aida Moreno-Moral, Bénédicte Danis, Manuela Mazzuferi, Patrik Foerch, Elena V Gazina, Kay Richards, Steven Petrou, Rafal M Kaminski, Enrico Petretto, Michael R Johnson
BACKGROUND: The relationship between monogenic and polygenic forms of epilepsy is poorly understood and the extent to which the genetic and acquired epilepsies share common pathways is unclear. Here, we use an integrated systems-level analysis of brain gene expression data to identify molecular networks disrupted in epilepsy. RESULTS: We identified a co-expression network of 320 genes (M30), which is significantly enriched for non-synonymous de novo mutations ascertained from patients with monogenic epilepsy and for common variants associated with polygenic epilepsy...
December 13, 2016: Genome Biology
https://www.readbyqxmd.com/read/27909386/crouch-gait-in-dravet-syndrome
#9
COMMENT
Laura Black, Deborah Gaebler-Spira
Investigators from Necker Enfants Malades Hospital, Sorbonne Paris Cite University, Raymond Poincare University, and Paris Descartes University studied motor neuron function in children with Dravet syndrome (DS).
November 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27859038/duration-of-use-of-oral-cannabis-extract-in-a-cohort-of-pediatric-epilepsy-patients
#10
Lauren Treat, Kevin E Chapman, Kathryn L Colborn, Kelly G Knupp
OBJECTIVE: Oral cannabis extracts (OCEs) are being used in the treatment of epilepsy with increasing rates in the United States following product legalization; however, no studies demonstrate clear efficacy. We evaluated the duration of use of OCEs as a measure of perceived benefit in a cohort of patients with pediatric epilepsy. METHODS: Retrospective chart review was performed of children and adolescents who were given OCEs for treatment of epilepsy. RESULTS: Of the 119 patients included in the analysis, 71% terminated use of their OCE product during the study period...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27857626/expecting-the-unexpected-lack-of-in-vivo-network-defects-in-an-scn1a-model-of-dravet-syndrome
#11
Jacob M Hull, Lori L Isom
No abstract text is available yet for this article.
November 2016: Epilepsy Currents
https://www.readbyqxmd.com/read/27846840/exclusive-intraoperative-radiotherapy-for-invasive-breast-cancer-in-elderly-patients-70%C3%A2-years-proportion-of-eligible-patients-and-local-recurrence-free-survival
#12
MULTICENTER STUDY
Eric Lambaudie, Gilles Houvenaeghel, Amira Ziouèche, Sophie Knight, François Dravet, Jean Remy Garbay, Sylvie Giard, Hélène Charitansky, Monique Cohen, Christelle Faure, Delphine Hudry, Paul Azuar, Richard Villet, Pierre Gimbergues, Christine Tunon de Lara, Agnès Tallet, Marie Bannier, Mathieu Minsat, Michel Resbeut
BACKGROUND: To estimate the proportion of elderly patients (>70 years) with breast cancer eligible for an Exclusive IntraOperative RadioTherapy (E-IORT) and to evaluate their local recurrence-free survival rate. METHODS: This retrospective study examining two cohorts focuses on patients over 70 years old: a multi-centric cohort of 1411 elderly patients and a mono-centric cohort of 592 elderly patients. All patients underwent conservative surgery followed by external radiotherapy for T0-T3 N0-N1 invasive breast cancer, between 1980 and 2008...
November 15, 2016: BMC Surgery
https://www.readbyqxmd.com/read/27817982/from-genotype-to-phenotype-in-dravet-disease
#13
Svetlana Gataullina, Olivier Dulac
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within the first year of life, often triggered by hyperthermia whatever its cause, including pertussis vaccination. Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. Massive myoclonus, rare absences, complex partial seizures and generalized spikes may appear several years later. Myoclonic status may occur in childhood, but acute encephalopathy with febrile SE followed by ischemic lesions and psychomotor impairment, the most severe condition, occurs mainly within the first five years of life...
October 21, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27810515/mortality-in-dravet-syndrome
#14
Monica S Cooper, Anne Mcintosh, Douglas E Crompton, Jacinta M McMahon, Amy Schneider, Kevin Farrell, Vijeya Ganesan, Deepak Gill, Sara Kivity, Tally Lerman-Sagie, Ailsa McLellan, James Pelekanos, Venkateswaran Ramesh, Lynette Sadleir, Elaine Wirrell, Ingrid E Scheffer
We measured the mortality rate and the rate of Sudden Unexpected Death in Epilepsy (SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited, unrelated patients with DS; 87 had SCN1A mutations. Living cases had a median follow-up of 17 years. Seventeen patients died, at a median age of seven years (inter-quartile range 3-11 years) with causes of death: 10 SUDEP, four status epilepticus, two drowning and one asphyxia. The SUDEP classification included three Definite, one Definite Plus and six Probable...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27799911/huperzine-a-provides-robust-and-sustained-protection-against-induced-seizures-in-scn1a-mutant-mice
#15
Jennifer C Wong, Stacey B B Dutton, Stephen D Collins, Steven Schachter, Andrew Escayg
De novo loss-of-function mutations in the voltage-gated sodium channel (VGSC) SCN1A (encoding Nav1.1) are the main cause of Dravet syndrome (DS), a catastrophic early-life encephalopathy associated with prolonged and recurrent early-life febrile seizures (FSs), refractory afebrile epilepsy, cognitive and behavioral deficits, and a 15-20% mortality rate. SCN1A mutations also lead to genetic epilepsy with febrile seizures plus (GEFS+), which is an inherited disorder characterized by early-life FSs and the development of a range of adult epilepsy subtypes...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27790834/low-dose-fenfluramine-significantly-reduces-seizure-frequency-in-dravet-syndrome-a-prospective-study-of-a-new-cohort-of-patients
#16
A Schoonjans, B P Paelinck, F Marchau, B Gunning, A Gammaitoni, B S Galer, L Lagae, B Ceulemans
BACKGROUND AND PURPOSE: Dravet syndrome (DS) is a severe, drug-resistant epilepsy. Fenfluramine has been reported to have a long-term clinically meaningful anticonvulsive effect in patients with DS. METHODS: This prospective, open-label study assessed the safety and effectiveness of low-dose fenfluramine in a new cohort of patients with DS. Following a 3-month baseline period, fenfluramine was added to each patient's current antiepileptic drug regimen at a dose of 0...
October 28, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27781027/understanding-genotypes-and-phenotypes-in-epileptic-encephalopathies
#17
REVIEW
Ingo Helbig, Abou Ahmad N Tayoun
Epileptic encephalopathies are severe often intractable seizure disorders where epileptiform abnormalities contribute to a progressive disturbance in brain function. Often, epileptic encephalopathies start in childhood and are accompanied by developmental delay and various neurological and non-neurological comorbidities. In recent years, this concept has become virtually synonymous with a group of severe childhood epilepsies including West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, and several other severe childhood epilepsies for which genetic factors are increasingly recognized...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27768696/fine-mapping-of-a-dravet-syndrome-modifier-locus-on-mouse-chromosome-5-and-candidate-gene-analysis-by-rna-seq
#18
Nicole A Hawkins, Nicole J Zachwieja, Alison R Miller, Lyndsey L Anderson, Jennifer A Kearney
A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. Dravet syndrome patients experience multiple seizures types that are often refractory to treatment, developmental delays, and elevated risk for SUDEP. The same sodium channel mutation can produce epilepsy phenotypes of varying clinical severity...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27762395/differential-protein-structural-disturbances-and-suppression-of-assembly-partners-produced-by-nonsense-gabrg2-epilepsy-mutations-implications-for-disease-phenotypic-heterogeneity
#19
Juexin Wang, Dingding Shen, Geqing Xia, Wangzhen Shen, Robert L Macdonald, Dong Xu, Jing-Qiong Kang
Mutations in GABAA receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic seizures and the epileptic encephalopathy, Dravet syndrome. The molecular basis for the phenotypic heterogeneity of mutations is unclear. Here we focused on three nonsense mutations in GABRG2 (GABRG2(R136*), GABRG2(Q390*) and GABRG2(W429*)) associated with epilepsies of different severities...
October 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27746737/%C3%AE-9-thc-intoxication-by-cannabidiol-enriched-cannabis-extract-in-two-children-with-refractory-epilepsy-full-remission-after-switching-to-purified-cannabidiol
#20
José A S Crippa, Ana C S Crippa, Jaime E C Hallak, Rocio Martín-Santos, Antonio W Zuardi
Animal studies and preliminary clinical trials have shown that cannabidiol (CBD)-enriched extracts may have beneficial effects for children with treatment-resistant epilepsy. However, these compounds are not yet registered as medicines by regulatory agencies. We describe the cases of two children with treatment-resistant epilepsy (Case A with left frontal dysplasia and Case B with Dravet Syndrome) with initial symptom improvement after the introduction of CBD extracts followed by seizure worsening after a short time...
2016: Frontiers in Pharmacology
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