相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy
Jennifer C. Wong et al.
NEUROBIOLOGY OF DISEASE (2021)
Cannabichromene, Related Phytocannabinoids, and 5-Fluoro-cannabichromene Have Anticonvulsant Properties in a Mouse Model of Dravet Syndrome
Lyndsey L. Anderson et al.
ACS CHEMICAL NEUROSCIENCE (2021)
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
Domenica Battaglia et al.
BRAIN & DEVELOPMENT (2021)
Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome
Barbara Miziak et al.
EXPERT OPINION ON DRUG DISCOVERY (2021)
Safety considerations selecting antiseizure medications for the treatment of individuals with Dravet syndrome
Rima Nabbout et al.
EXPERT OPINION ON DRUG SAFETY (2021)
Ataluren for drug-resistant epilepsy in nonsense variant-mediated Dravet syndrome and CDKL5 deficiency disorder
Orrin Devinsky et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)
A systematic review of adults with Dravet syndrome
Arunan Selvarajah et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2021)
Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome
Rajeswari Banerji et al.
BRAIN COMMUNICATIONS (2021)
dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice
Gaia Colasante et al.
MOLECULAR THERAPY (2020)
NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome
Wout J. Weuring et al.
PLOS ONE (2020)
GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in Dravet Syndrome and Alzheimer's Disease Models
Jesse E. Hanson et al.
CELL REPORTS (2020)
A selective NaV1.1 activator with potential for treatment of Dravet syndrome epilepsy
Chun Yuen Chow et al.
BIOCHEMICAL PHARMACOLOGY (2020)
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens A Randomized Clinical Trial
Rima Nabbout et al.
JAMA NEUROLOGY (2020)
A 5-HT1D-receptor agonist protects Dravet syndrome mice from seizure and early death
Paul G. Hatini et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2020)
The Glucagon-Like Peptide-1 Analogue Liraglutide Reduces Seizures Susceptibility, Cognition Dysfunction and Neuronal Apoptosis in a Mouse Model of Dravet Syndrome
Shenhai Liu et al.
FRONTIERS IN PHARMACOLOGY (2020)
CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice
Tetsushi Yamagata et al.
NEUROBIOLOGY OF DISEASE (2020)
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study
Nicola Specchio et al.
EPILEPSIA (2020)
Starting stiripentol in adults with Dravet syndrome? Watch for ammonia and carnitine
Quratulain Zulfiqar Ali et al.
EPILEPSIA (2020)
Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression
Kian Huat Lim et al.
NATURE COMMUNICATIONS (2020)
Prehospital midazolam use and outcomes among patients with out-of-hospital status epilepticus
Elan L. Guterman et al.
NEUROLOGY (2020)
Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome
Zhou Han et al.
SCIENCE TRANSLATIONAL MEDICINE (2020)
Venom Peptides with Dual Modulatory Activity on the Voltage-Gated Sodium Channel Nav1.1 Provide Novel Leads for Development of Antiepileptic Drugs
Chun Yuen Chow et al.
ACS PHARMACOLOGY & TRANSLATIONAL SCIENCE (2020)
Levetiracetam as an alternative to phenytoin for second-line emergency treatment of children with convulsive status epilepticus: the EcLiPSE RCT
Richard E. Appleton et al.
HEALTH TECHNOLOGY ASSESSMENT (2020)
Individualized treatment approaches: Fenfluramine, a novel antiepileptic medication for the treatment of seizures in Dravet syndrome
Tilman Polster
EPILEPSY & BEHAVIOR (2019)
More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients
An-Sofie Schoonjans et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2019)
Gait deviations in patients with dravet syndrome: A systematic review
Lore Wyers et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2019)
Levetiracetam versus phenytoin for second-line treatment of convulsive status epilepticus in children (ConSEPT): an open-label, multicentre, randomised controlled trial
Stuart R. Dalziel et al.
LANCET (2019)
Levetiracetam versus phenytoin for second-line treatment of paediatric convulsive status epilepticus (EcLiPSE): a multicentre, open-label, randomised trial
Mark D. Lyttle et al.
LANCET (2019)
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
Joseph D. Symonds et al.
BRAIN (2019)
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature
Susanne Schubert-Bast et al.
EPILEPSY & BEHAVIOR (2019)
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life
Se Song Jang et al.
FRONTIERS IN NEUROLOGY (2019)
Randomized Trial of Three Anticonvulsant Medications for Status Epilepticus
Jaideep Kapur et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial
Orrin Devinsky et al.
EPILEPSIA (2019)
Outcomes and comorbidities of SCN1A-related seizure disorders
Iris M. de Lange et al.
EPILEPSY & BEHAVIOR (2019)
Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults
Francesca Darra et al.
EPILEPSIA (2019)
Dravet syndrome: Treatment options and management of prolonged seizures
J. Helen Cross et al.
EPILEPSIA (2019)
A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies
Ana Rita Salgueiro-Pereira et al.
NEUROBIOLOGY OF DISEASE (2019)
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
Iris M. de Lange et al.
EPILEPSIA (2018)
Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results
Jerzy P. Szaflarski et al.
EPILEPSIA (2018)
Parental Mosaicism in De Novo Epileptic Encephalopathies
Candace T. Myers et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death
Kay L. Richards et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Emerging drugs for the treatment of Dravet syndrome
Francesco Brigo et al.
EXPERT OPINION ON EMERGING DRUGS (2018)
Sleep problems in Dravet syndrome: a modifiable comorbidity
Shane H. Licheni et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2018)
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey
Lieven Lagae et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2018)
Clinical implications of SCNIA missense and truncation variants in a large Japanese cohort with Dravet syndrome
Atsushi Ishii et al.
EPILEPSIA (2017)
Dravet syndrome and its mimics: Beyond SCN1A
Dora Steel et al.
EPILEPSIA (2017)
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns
Nicole Villas et al.
EPILEPSY & BEHAVIOR (2017)
A small molecule activator of Nav1.1 channels increases fast-spiking interneuron excitability and GABAergic transmission in vitro and has anti-convulsive effects in vivo
Kristen Frederiksen et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2017)
Dysarthria and broader motor speech deficits in Dravet syndrome
Samantha J. Turner et al.
NEUROLOGY (2017)
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
Valentina Cetica et al.
NEUROLOGY (2017)
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome
Orrin Devinsky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel
Elaine C. Wirrell et al.
PEDIATRIC NEUROLOGY (2017)
Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases
Kenneth A. Myers et al.
PEDIATRICS (2017)
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients
Maxine Dibue-Adjei et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)
From genotype to phenotype in Dravet disease
Svetlana Gataullina et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)
Helping Families Cope with the Severe Stress of Dravet Syndrome
Peter Camfield et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2016)
Treatment of Dravet Syndrome
Elaine C. Wirrell
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2016)
Mortality in Dravet syndrome
Monica S. Cooper et al.
EPILEPSY RESEARCH (2016)
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Natalie Trump et al.
JOURNAL OF MEDICAL GENETICS (2016)
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial
Orrin Devinsky et al.
LANCET NEUROLOGY (2016)
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
Jeremiah D. Osteen et al.
NATURE (2016)
Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scnla Mutant Mice
Jennifer C. Wong et al.
FRONTIERS IN PHARMACOLOGY (2016)
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome
J. Hsiao et al.
EBIOMEDICINE (2016)
Pitfalls in genetic testing: the story of missed SCN1A mutations
Tania Djemie et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2016)
Drug-drug interaction between clobazam and cannabidiol in children with refractory epilepsy
Alexandra L. Geffrey et al.
EPILEPSIA (2015)
Efficacy and tolerability of the ketogenic diet in Dravet syndrome - Comparison with various standard antiepileptic drug regimen
Anastasia Dressler et al.
EPILEPSY RESEARCH (2015)
Lamotrigine can be beneficial in patients with Dravet syndrome
Linda Dalic et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2015)
Tau Reduction Prevents Disease in a Mouse Model of Dravet Syndrome
Ania L. Gheyara et al.
ANNALS OF NEUROLOGY (2014)
ANTECOLLIS AND LEVODOPA-RESPONSIVE PARKINSONISM ARE LATE FEATURES OF DRAVET SYNDROME
Alfonso Fasano et al.
NEUROLOGY (2014)
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Rima Nabbout et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment
Scott C. Baraban et al.
NATURE COMMUNICATIONS (2013)
Progressive Gait Deterioration in Adolescents With Dravet Syndrome
Jill M. Rodda et al.
ARCHIVES OF NEUROLOGY (2012)
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
A. Brunklaus et al.
BRAIN (2012)
Successful use of fenfluramine as an add-on treatment for Dravet syndrome
Berten Ceulemans et al.
EPILEPSIA (2012)
Bromide in Patients with SCN1A-Mutations Manifesting as Dravet Syndrome
Jan Lotte et al.
NEUROPEDIATRICS (2012)
Concentrations of Stiripentol in Children and Adults With Epilepsy: The Influence of Dose, Age, and Comedication
Theodor W. May et al.
THERAPEUTIC DRUG MONITORING (2012)
Overall management of patients with Dravet syndrome
Berten Ceulemans
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
Comprehensive care of children with Dravet syndrome
Tiziana Granata
EPILEPSIA (2011)
Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
Francesca Ragona et al.
EPILEPSIA (2011)
Dravet syndrome: The long-term outcome
Pierre Genton et al.
EPILEPSIA (2011)
Comorbidities and predictors of health-related quality of life in Dravet syndrome
Andreas Brunklaus et al.
EPILEPSIA (2011)
Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study
Rima Nabbout et al.
EPILEPSIA (2011)
The treatment of acute convulsive seizures in children
Lieven Lagae
EUROPEAN JOURNAL OF PEDIATRICS (2011)
A long-term follow-up study of Dravet syndrome up to adulthood
Mari Akiyama et al.
EPILEPSIA (2010)
Generalized convulsive status epilepticus management in adults: A cohort study with evaluation of professional practice
Alexandre Aranda et al.
EPILEPSIA (2010)
Unusual consequences of status epilepticus in Dravet syndrome
M. Chipaux et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2010)
Dravet syndrome: From electroclinical characteristics to molecular biology
Alexis Arzimanoglou
EPILEPSIA (2009)
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
C. Depienne et al.
JOURNAL OF MEDICAL GENETICS (2009)
Treatment of community-onset, childhood convulsive status epilepticus: a prospective, population-based study
Richard F. M. Chin et al.
LANCET NEUROLOGY (2008)
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
F. E. Jansen et al.
NEUROLOGY (2006)
Topiramate in the treatment of highly refractory patients with Dravet syndrome
J. Kroll-Seger et al.
NEUROPEDIATRICS (2006)
Complications of vagal nerve stimulation for epilepsy in children
F Rychlicki et al.
NEUROSURGICAL REVIEW (2006)
In vitro and in vivo inhibitory effect of stiripentol on clobazam metabolism
C Giraud et al.
DRUG METABOLISM AND DISPOSITION (2006)
Ketogenic diet in patients with Dravet syndrome
RH Caraballo et al.
EPILEPSIA (2005)
Multidisciplinary approach to childhood epilepsy: Exploring the scientific rationale and practical aspects of implementation
J Goldstein et al.
JOURNAL OF CHILD NEUROLOGY (2004)
Complications of chronic vagus nerve stimulation for epilepsy in children
MD Smyth et al.
JOURNAL OF NEUROSURGERY (2003)
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
L Claes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial
C Chiron et al.
LANCET (2000)
分享论文
