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Dravet Syndrome

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https://www.readbyqxmd.com/read/29331789/anticonvulsant-activities-of-%C3%AE-asaronol-e-3-hydroxyasarone-an-active-constituent-derived-from-%C3%AE-asarone
#1
Xirui He, Yajun Bai, Min Zeng, Zefeng Zhao, Qiang Zhang, Ning Xu, Fanggang Qin, Xiaoyang Wei, Meimei Zhao, Ni Wu, Zehua Li, Yajun Zhang, Tai-Ping Fan, Xiaohui Zheng
BACKGROUND: Epilepsy is one of chronic neurological disorders that affects 0.5-1.0% of the world's population during their lifetime. There is a still significant need to develop novel anticonvulsant drugs that possess superior efficacy, broad spectrum of activities and good safety profile. METHODS: α-Asaronol and two current antiseizure drugs (α-asarone and carbamazepine (CBZ)) were assessed by in vivo anticonvulsant screening with the three most employed standard animal seizure models, including maximal electroshock seizure (MES), subcutaneous injection-pentylenetetrazole (PTZ)-induced seizures and 3-mercaptopropionic acid (3-MP)-induced seizures in mice...
August 31, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29329111/severe-peri-ictal-respiratory-dysfunction-is-common-in-dravet-syndrome
#2
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Douglas R Nordli Jr, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. DS patients have a high risk of sudden unexplained death in epilepsy (SUDEP), believed to be due to cardiac mechanisms. Here we show that DS patients have peri-ictal respiratory dysfunction. One patient who had severe and prolonged postictal hypoventilation later died of SUDEP. Mice with an Scn1aR1407X/+ loss of function mutation died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
January 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29314583/novel-mutations-and-phenotypes-of-epilepsy-associated-genes-in-epileptic-encephalopathies
#3
Peng Zhou, Na He, Jing-Wen Zhang, Zhi-Jian Lin, Jie Wang, Li-Min Yan, Heng Meng, Bin Tang, Bing-Mei Li, Xiao-Rong Liu, Yi-Wu Shi, Qiong-Xiang Zhai, Yong-Hong Yi, Wei-Ping Liao
Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty-three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic/likely pathogenic with clinical concordance...
January 4, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29314377/cannabidiol-for-drug-resistant-seizures-in-the-dravet-syndrome
#4
Craig Mellis
No abstract text is available yet for this article.
January 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29295803/differential-effects-on-sodium-current-impairments-by-distinct-scn1a-mutations-in-gabaergic-neurons-derived-from-dravet-syndrome-patients
#5
Hyun Woo Kim, Zhejiu Quan, Young-Beom Kim, Eunji Cheong, Heung Dong Kim, Minjung Cho, Jiho Jang, Young Rang You, Joon Soo Lee, Ji Hun Kim, Yang In Kim, Dae-Sung Kim, Hoon-Chul Kang
BACKGROUND: We investigated how two distinct mutations in SCN1A differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients. MATERIALS AND METHODS: We established induced pluripotent stem cells from two DS patients with different mutations in SCN1A and subsequently differentiated them into forebrain GABAergic neurons. Functionality of differentiated GABAergic neurons was examined by electrophysiological recordings...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29238957/sleep-oxygen-saturation-and-seizures-in-dravet-syndrome
#6
Sameer M Zuberi
No abstract text is available yet for this article.
December 14, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29225539/anticonvulsant-effects-of-cannabidiol-in-dravet-syndrome
#7
COMMENT
Mohamad Koubeissi
No abstract text is available yet for this article.
September 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29225534/opposing-phenotypes-in-dravet-syndrome-patient-derived-induced-pluripotent-stem-cell-neurons-can-everyone-be-right
#8
COMMENT
Lori L Isom
No abstract text is available yet for this article.
July 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29214639/cannabinoids-for-epilepsy-what-do-we-know-and-where-do-we-go
#9
REVIEW
Martin J Brodie, Elinor Ben-Menachem
Over the past decade there has been an increasing interest in using cannabinoids to treat a range of epilepsy syndromes following reports of some remarkable responses in individual patients. The situation is complicated by the fact that these agents do not appear to work via their attachment to endogenous cannabinoid receptors. Their pharmacokinetics are complex, and bioavailability is variable, resulting in difficulty in developing a suitable formulation for oral delivery. Drug interactions also represent another complication in their everyday use...
December 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/29188601/-analysis-of-scn1a-deletions-or-duplications-in-patients-with-dravet-syndrome
#10
Qi Zeng, Yuehua Zhang, Xiaoling Yang, Xiaojing Xu, Jing Zhang, Xiaojuan Tian, Aijie Liu, Xiaoyan Liu, Yuwu Jiang, Xiru Wu
OBJECTIVE: To determine the type and frequency of SCN1A deletions and duplications among patients with Dravet syndrome (DS). METHODS: For DS patients in which no mutations of the SCN1A gene were detected by PCR-DNA sequencing, SCN1A deletions and duplications were detected by multiplex ligation-dependent probe amplification (MLPA). RESULTS: In 680 DS patients, 489 had SCN1A mutations identified by PCR-DNA sequencing. In 191 patients who were negative for the SCN1A PCR-DNA sequencing, 15 (15/191, 7...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29142202/genomic-mosaicism-in-paternal-sperm-and-multiple-parental-tissues-in-a-dravet-syndrome-cohort
#11
Xiaoxu Yang, Aijie Liu, Xiaojing Xu, Xiaoling Yang, Qi Zeng, Adam Yongxin Ye, Zhe Yu, Sheng Wang, August Yue Huang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue samples. We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental mosaicism of the proband's pathogenic mutation in SCN1A, the causal gene of DS in 112 families. Ten of the 56 paternal sperm samples were found to exhibit mosaicism of the proband's mutations, with mutant allelic fractions (MAFs) ranging from 0...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#12
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141279/efficacy-of-stiripentol-in-dravet-syndrome-with-or-without-scn1a-mutations
#13
Min Jung Cho, Soon Sung Kwon, Ara Ko, Seung Tae Lee, Young Mock Lee, Heung Dong Kim, Hee Jung Chung, Se Hee Kim, Joon Soo Lee, Dae Sung Kim, Hoon Chul Kang
BACKGROUND AND PURPOSE: The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS: We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and classified them into mutation (pathogenic or likely pathogenic) and nonmutation groups based on American College of Medical Genetics and Genomics guidelines...
October 31, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29127345/the-synthetic-neuroactive-steroid-sge-516-reduces-seizure-burden-and-improves-survival-in-a-dravet-syndrome-mouse-model
#14
Nicole A Hawkins, Michael Lewis, Rebecca S Hammond, James J Doherty, Jennifer A Kearney
Dravet syndrome is an infant-onset epileptic encephalopathy with multiple seizure types that are often refractory to conventional therapies. Treatment with standard benzodiazepines like clobazam, in combination with valproate and stiripentol, provides only modest seizure control. While benzodiazepines are a first-line therapy for Dravet syndrome, they are limited by their ability to only modulate synaptic receptors. Unlike benzodiazepines, neuroactive steroids potentiate a wider-range of GABAA receptors. The synthetic neuroactive steroid SGE-516 is a potent positive allosteric modulator of both synaptic and extrasynaptic GABAA receptors...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29124748/is-epilepsy-the-cause-of-comorbidities-in-dravet-syndrome
#15
Svetlana Gataullina, Olivier Dulac
No abstract text is available yet for this article.
November 10, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29119560/prevalence-and-risk-factors-for-autism-spectrum-disorder-in-epilepsy-a-systematic-review-and-meta-analysis
#16
REVIEW
Lauren Strasser, Michelle Downes, Jane Kung, J Helen Cross, Michelle De Haan
AIM: To assess the prevalence and risk factors for autism spectrum disorder (ASD) in epilepsy, and to better understand the relationship and comorbidity between these disorders. METHOD: PsychINFO and PubMed were searched for articles published in the past 15 years that examined the prevalence of ASD in individuals with epilepsy. RESULTS: A total of 19 studies were found with a pooled ASD prevalence of 6.3% in epilepsy. When divided by type, the risks of ASD for general epilepsy, infantile spasms, focal seizures, and Dravet syndrome were 4...
November 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29110313/sleep-problems-in-dravet-syndrome-a-modifiable-comorbidity
#17
Shane H Licheni, Jacinta M Mcmahon, Amy L Schneider, Margot J Davey, Ingrid E Scheffer
AIM: Many children with severe developmental and epileptic encephalopathies experience significant sleep disturbance, causing major disruption to the family's quality of life. We aimed to determine the frequency and nature of sleep problems in individuals with Dravet syndrome. METHODS: The Sleep Disturbance Scale for Children and a seizure questionnaire were distributed to the parents/guardians of 96 patients with Dravet syndrome. Sixteen patients had two nights of home oximetry...
November 7, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29108913/development-and-content-validation-of-a-preliminary-core-set-of-patient-and-caregiver-relevant-outcomes-for-inclusion-in-a-potential-composite-endpoint-for-dravet-syndrome
#18
Rima Nabbout, Stephane Auvin, Catherine Chiron, John Irwin, Arun Mistry, Nicola Bonner, Nicola Williamson, Bryan Bennett
BACKGROUND: Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy characterized by multiple seizures, frequently prolonged and treatment refractory, with significant developmental disabilities and behavioral and psychiatric disorders. Patients with DS require intensive support and supervision from a caregiver, impacting significantly on both patients' and caregivers' lives. This study aimed to identify core concepts to measure the impact on both patients and caregivers in future DS clinical trials...
November 3, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29106691/developmental-effects-of-cannabidiol-and-%C3%AE-9-tetrahydrocannabinol-in-zebrafish
#19
Dennis R Carty, Cammi Thornton, James Gledhill, Kristine L Willett
Cannabidiol (CBD) has gained much attention in the past several years for its therapeutic potential in the treatment of drug-resistant epilepsy, such as Dravet Syndrome. While CBD has shown anecdotal efficacy in reducing seizure frequency, little is known regarding the potential adverse side-effects of CBD on physiology, development, organogenesis, or behavior. The goal of this project is to compare the relative morphological, behavioral, and gene expression phenotypes resulting after a developmental exposure to Δ9-tetrahydrocannabinol (THC) or CBD...
November 2, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#20
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
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