Keywords: سندرم Dravet; Dravet syndrome; SCN1A; myoclonic absence seizures; epileptic encephalopathy; absence seizures;
مقالات ISI ترجمه شده سندرم Dravet
مقالات ISI سندرم Dravet (ترجمه نشده)
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Keywords: سندرم Dravet; Dravet syndrome; epidemiology; incidence; prevalence; rare disease;
Keywords: سندرم Dravet; ADHD; Attention Deficit and Hyperactivity Disorder; ACMG; American College of Medical Genetics; AR; Autosomal Recessive; ASD; Autism Spectrum Disorders; aCGH; array Comparative Genomic Hybridization; BP; BreakPoints; CK1; Casein- Kinase 1; CdLS; Cornelia
Keywords: سندرم Dravet; CYP2C19; Dravet syndrome; Stiripentol; Topiramate; Valproate;
Keywords: سندرم Dravet; Dravet syndrome; Status epilepticus; SCN1A; NaV1.1; GABAergic neurons;
Keywords: سندرم Dravet; Cannabidiol; Epilepsy; Dravet syndrome; Lennox-Gastaut syndrome;
Keywords: سندرم Dravet; DS; Dravet syndrome; PIP; Pediatric Inventory for Parents; CHIP; Coping Health Inventory for Parents; Severe childhood epilepsy; Dravet syndrome; Severe myoclonic epilepsy in infancy; Caregiver burden;
Keywords: سندرم Dravet; Vagus nerve stimulator; Children; VNS; Dravet syndrome; Status epilepticusVNS, vagus nerve stimulator; ILAE, international league against epilepsy; AED, antiepileptic drug
Keywords: سندرم Dravet; West syndrome; Dravet syndrome; mTOR; Epilepsy; Cognition; SUDEP; Arx; GABA; Sodium channels; Multiple-hit model; GABA; NMDA; Tetrodotoxin
Keywords: سندرم Dravet; Dravet syndrome; SMEI; SCN1A; P-glycoprotein; Verapamil; Epilepsy; Multidrug transporters; Blood–brain barrier; Drug-resistance
Keywords: سندرم Dravet; Valproic acid; Pharmacokinetics; Dravet syndrome; Epilepsy; PBPK; Modelling
Keywords: سندرم Dravet; Epilepsy; Pediatric; Intractable; Cannabidiol; Side effects; Medically refractory seizures; Treatment-resistant; Dravet syndrome;
Keywords: سندرم Dravet; Dravet syndrome; Outcome; Seizure frequency; Seizure duration; Status epilepticus; Stiripentol; Combined therapy; SCN1A
Keywords: سندرم Dravet; PCDH19-related epilepsy; Dravet Syndrome; SCN1A; Genetic epilepsy; Epilepsy classification
Keywords: سندرم Dravet; Dravet syndrome; Epileptic encephalopathy; GEFS+; SCN1A mutation
Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey
Keywords: سندرم Dravet; DS; Dravet syndrome; EQ-5D; EuroQoL 5D-5L quality-of-life survey; IQR; interquartile range; NHIS; National Health Interview Survey; OCBS; Oberst Caregiving Burden Scale; QoL; quality of life; SD; standard deviation; US; United States; VAS; visual analogue
The direct and indirect costs of Dravet Syndrome
Keywords: سندرم Dravet; Economic burden; Epilepsy; Caregivers; Dravet Syndrome;
Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Refractory epilepsy; Ketogenic diet; SCN1A;
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome
Keywords: سندرم Dravet; FDG-PET; SCN1A; Dravet syndrome; Epileptic encephalopathy glucose metabolism;
The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment
Keywords: سندرم Dravet; Dravet syndrome; Parkinsonism; Antecollis; Cannabidiol; Seizures; STXBP1;
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
Keywords: سندرم Dravet; AED; antiepileptic drug; BRIEF-P; Behavior Rating Inventory of Executive Function; DS; Dravet Syndrome; EQ-5D-5L; EuroQoL Five Dimension Five Level; HRQoL; health-related quality of life; IS; Infantile Spasms; LGS; Lennox-Gastaut Syndrome; PedsQL-FIM; P
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells
Keywords: سندرم Dravet; Dravet syndrome; Epilepsy; Autism spectrum disorder; Hyperactivity; Scn1a; Conditional knockout mouse model; Parvalbumin; Somatostatin; Interneuron;
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients
Keywords: سندرم Dravet; Dravet syndrome; Voltage-gated sodium channel; Induced pluripotent stem cell;
Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?
Keywords: سندرم Dravet; Dravet Syndrome; SCN1A mutation; Fatality; Cerebral edema; Hyperthermia; SUDEP;
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis
Keywords: سندرم Dravet; SMEI; severe myoclonic epilepsy of infancy; GTC; generalized tonic-clonic; CXR; chest X-ray; DS; Dravet syndrome; CNV; copy number variation; PKC; protein kinase C; SCN1A gene; Splicing variants; Targeted next generation sequencing; Myoclonic epilepsy of
Case ReportA case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data
Keywords: سندرم Dravet; Dravet syndrome; Cortical myoclonus; Jerk-locked averaging; EEG;
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients
Keywords: سندرم Dravet; Dravet syndrome; SCN1A; Rare disease; Vagus nerve stimulation; VNS; Neuromodulation; Refractory epilepsy;
Growth and endocrine function in children with Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Endocrine; Growth; Short stature;
Movement-activated cortical myoclonus in Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Cortical myoclonus; Cortico-muscolar coherence; Spectral analysis; Somatosensory evoked potentials; SCN1A mutations;
ReviewThe humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research
Keywords: سندرم Dravet; DS; Dravet Syndrome; Dravet syndrome; Severe myoclonic epilepsy in infancy; Caregiver burden; Costs;
Age-related “Sleep/nocturnal” tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome
Keywords: سندرم Dravet; S/N; sleep/nocturnal; DS; Dravet Syndrome; LGS; Lennox Gastaut Syndrome; AEDs; antiepileptic drugs; GTCS; generalised tonic-clonic seizures; SE; status epilepticus; Tonic, tonic clonic seizures; Frontal central seizures; Lennox Gastaut syndrome; Sleep d
Original ArticleOptimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel
Keywords: سندرم Dravet; Dravet syndrome; diagnosis; genetic testing; questionnaire; guidelines;
Parental Perception of Comorbidities in Children With Dravet Syndrome
Keywords: سندرم Dravet; Dravet syndrome; comorbidities; appetite; sleep;
Disorders of early language development in Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Cognitive decline; Language developmental disorders;
Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A
Keywords: سندرم Dravet; Dravet syndrome; SCN1A; Mosaicism; Inheritance; Whole exome sequencing;
Short communicationMortality in Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Epilepsy; Mortality; Sudden unexpected death in epilepsy;
Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations
Keywords: سندرم Dravet; EFMR; epilepsy in females with mental retardation; DS; Dravet syndrome; ID; intellectual disorder; ASD; autism spectrum disorder; VABS; Vineland Adaptive Behavior Scales; CBCL; Child Behavior Checklist; BRIEF; Behavior Rating Inventory of Executive Functi
Prevalence and Characteristics of Vaccination Triggered Seizures in Dravet Syndrome in Hong Kong: A Retrospective Study
Keywords: سندرم Dravet; Dravet syndrome; vaccination; children; seizure;
Outlining a core neuropsychological phenotype for Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Epileptic encephalopathy; Channelopathy; Neuropsychological phenotypes; Visuoconstructive ability impairment;
Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes
Keywords: سندرم Dravet; Genetic tests; Dravet syndrome; Antiepileptic drug therapy; Efficacy;
Cognitive-behavioral profiles in teenagers with Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Neuropsychological profiles; Epileptic encephalopathies
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome
Keywords: سندرم Dravet; Dravet syndrome; SCN1A; Long non-coding RNA; Natural antisense transcript; AntagoNAT; Oligonucleotide-based compound
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome
Keywords: سندرم Dravet; NMR spectroscopy; β-Ureidopropionase deficiency; Dravet syndrome; Dual molecular diagnoses
Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe?
Keywords: سندرم Dravet; Adults; Dravet syndrome; Epilepsy; Withdrawal; Carbamazepine; Oxcarbazepine
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families
Keywords: سندرم Dravet; SCN1A; Dravet syndrome; Severe myoclonic epilepsy of infancy; GEFS+; Febrile seizures;
Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
Keywords: سندرم Dravet; Migrating partial seizures of infancy; Dravet syndrome; SCN1A; 2q24.3 deletion;
Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures
Keywords: سندرم Dravet; Voltage-gated sodium channels; Acute encephalopathy; Status epilepticus; AEIMSE; acute encephalopathy with inflammation-mediated status epilepticus; AESD; acute encephalopathy with biphasic seizures and late reduced diffusion; ANE; acute necrotizing encep
The European patient with Dravet syndrome: Results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome
Keywords: سندرم Dravet; Dravet syndrome; Childhood epilepsy; Antiepileptic drug; Orphan drug; Stiripentol; Clinical trials;
Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?
Keywords: سندرم Dravet; DS; Dravet syndrome; Severe myoclonic epilepsy of infancy; SMEI; SCN1A; Provocation; Physical exercise; Triggers;
Autism and behavior in adult patients with Dravet syndrome (DS)
Keywords: سندرم Dravet; Dravet syndrome; Severe Myoclonic Epilepsy in Infancy (SMEI); Adulthood; Behavior; Autism;