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https://www.readbyqxmd.com/read/29142202/genomic-mosaicism-in-paternal-sperm-and-multiple-parental-tissues-in-a-dravet-syndrome-cohort
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28984349/quality-of-life-and-comorbidities-associated-with-dravet-syndrome-severity-a-multinational-cohort-survey
#11
Lieven Lagae, Isabella Brambilla, Ana Mingorance, Eddie Gibson, Alysia Battersby
AIM: To test the hypothesis that higher seizure burden in Dravet syndrome is associated with increased comorbidities and lower quality of life (QoL) in a large cohort of patients with Dravet syndrome and their caregivers in Europe. METHOD: An extensive survey of caregivers of patients with Dravet syndrome on experiences of diagnosis, seizure burden, management, social and financial impact, and health services use was administered online in 10 languages. RESULTS: The survey received 584 unique responses from caregivers of paediatric (83%) and adult (17%) patients with Dravet syndrome (aged <1-48y)...
October 6, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28982531/parental-perception-of-comorbidities-in-children-with-dravet-syndrome
#12
Kelly G Knupp, Sharon Scarbro, Greta Wilkening, Elizabeth Juarez-Colunga, Allison Kempe, Amanda Dempsey
BACKGROUND: We hypothesized that children with Dravet syndrome may have additional common features beyond seizures and cognitive impairment. To address this gap in knowledge, we conducted a survey of caregivers of children with Dravet syndrome to identify and quantify their perception of associated symptoms in this population. METHODS: An electronic survey was developed in REDcap (Research Electronic Data Capture) and sent via e-mail to the participants on the Dravet Syndrome Foundation e-mail list...
June 20, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28973916/cannabidiol-attenuates-seizures-and-social-deficits-in-a-mouse-model-of-dravet-syndrome
#13
Joshua S Kaplan, Nephi Stella, William A Catterall, Ruth E Westenbroek
Worldwide medicinal use of cannabis is rapidly escalating, despite limited evidence of its efficacy from preclinical and clinical studies. Here we show that cannabidiol (CBD) effectively reduced seizures and autistic-like social deficits in a well-validated mouse genetic model of Dravet syndrome (DS), a severe childhood epilepsy disorder caused by loss-of-function mutations in the brain voltage-gated sodium channel NaV1.1. The duration and severity of thermally induced seizures and the frequency of spontaneous seizures were substantially decreased...
October 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28951233/identification-of-two-mutations-in-cis-in-the-scn1a-gene-in-a-family-showing-genetic-epilepsy-with-febrile-seizures-plus-gefs-and-idiopathic-generalized-epilepsy-ige
#14
N Binini, G Sancini, C Villa, R Dal Magro, V Sansoni, R Rusconi, M Mantegazza, D Grioni, F Talpo, M Toselli, R Combi
Mutations in the SCN1A gene causing either loss or gain of function have been frequently found in patients affected by genetic epilepsy with febrile seizures plus (GEFS+) or Dravet syndrome (also named severe myoclonic epilepsy in infancy SMEI). By mutation screening of the SCN1A gene, we identified for the first time a case of two missense mutations in cis (p.[Arg1525Gln;Thr297Ile]) in all affected individuals of an Italian family showing GEFS+ and idiopathic generalized epilepsy (IGE). The p.Arg1525Gln mutation was not previously reported yet and was predicted to be pathological by prediction tools, whereas the p...
December 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28939549/cannabidiol-reduced-frequency-of-convulsive-seizures-in-drug-resistant-dravet-syndrome
#15
Yasmin Moore, Robert Robinson
No abstract text is available yet for this article.
September 22, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28880996/dravet-syndrome-and-its-mimics-beyond-scn1a
#16
REVIEW
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/28845714/the-potential-role-of-cannabinoids-in-epilepsy-treatment
#17
Carmen De Caro, Antonio Leo, Rita Citraro, Caterina De Sarro, Roberto Russo, Antonio Calignano, Emilio Russo
Epilepsy is one of the world's oldest recognized and prevalent neurological diseases. It has a great negative impact on patients' quality of life (QOL) as a consequence of treatment resistant seizures in about 30% of patients together with drugs' side effects and comorbidities. Therefore, new drugs are needed and cannabinoids, above all cannabidiol, have recently gathered attention. Areas covered: This review summarizes the scientific data from human and animal studies on the major cannabinoids which have been of interest in the treatment of epilepsy, including drugs acting on the endocannabinoid system...
September 4, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28819726/population-pharmacokinetics-of-stiripentol-in-paediatric-patients-with-dravet-syndrome-treated-with-stiripentol-valproate-and-clobazam-combination-therapy
#18
Sophie Peigné, Stéphanie Chhun, Michel Tod, Elisabeth Rey, Christelle Rodrigues, Catherine Chiron, Gérard Pons, Vincent Jullien
AIM: The aim of this study was to describe the pharmacokinetics of stiripentol in children with Dravet syndrome and to determine the concentrations of stiripentol achieved in this population for the usual 25 mg/kg twice-daily dose. METHODS: Thirty-five children with epilepsy were included in a prospective population pharmacokinetic study (using MONOLIX software). Four blood samples were drawn per patient. Stiripentol area under the plasma concentration-time curve (AUC) values and trough concentrations were simulated for 7000 theoretical children weighing between 10 and 70 kg for the 25 mg/kg twice-daily dose...
August 17, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28813226/trial-of-cannabidiol-for-drug-resistant-seizures-in-the-dravet-syndrome
#19
LETTER
Orrin Devinsky, J Helen Cross, Stephen Wright
New England Journal of Medicine, Volume 377, Issue 7, Page 699-700, August 2017.
August 17, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28812061/behavioral-comorbidities-and-drug-treatments-in-a-zebrafish-scn1lab-model-of-dravet-syndrome
#20
Brian P Grone, Tiange Qu, Scott C Baraban
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1lab(s552/s552) mutants exhibit early-life seizures, metabolic deficits, and early death...
July 2017: ENeuro
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