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■ Abbreviation / Long Form : DS / Dravet syndrome

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Total Number of Papers: 196
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Abbreviation:   DS  (>> Co-occurring Abbreviation)
Long Form:   Dravet syndrome
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. ---
2019 Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. ---
2019 Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. ---
2019 Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype. ADI-R, ASD, CDI, DA, ID, SCD, VABS-II
2019 Behavior problems and health-related quality of life in Dravet syndrome. C/ABCL, CI, GP, HRQoL, QOL
2019 Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany. AED, OOP, QOL, SE
2019 Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study. QOL
2019 Drug repurposing for Dravet syndrome in scn1Lab-/- mutant zebrafish. EFA, EKP, LIS, RIZA
2019 Efficacy of the ketogenic diet in Chinese children with Dravet syndrome: A focus on neuropsychological development. DA, DQ, KD
10  2019 Epidiolex (Cannabidiol): A New Hope for Patients With Dravet or Lennox-Gastaut Syndromes. CBD, LGS
11  2019 G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters. FS
12  2019 Ketogenic diet as a successful early treatment modality for SCN2A mutation. EIEE, KD, OS, WS
13  2019 Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial. AEs, CBD
14  2019 Longitudinal change of cardiac electrical and autonomic function and potential risk factors in children with dravet syndrome. HRV
15  2019 More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients. CSI
16  2019 RNA-seq Analysis of the SCN1A-KO Model based on CRISPR/Cas9 Genome Editing Technology. ---
17  2019 SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases. ---
18  2019 The direct cost of seizure events in severe childhood-onset epilepsies: A retrospective claims-based analysis. AED, LGS, PPPY, TSC
19  2018 Altered vaccine-induced immunity in children with Dravet syndrome. ---
20  2018 Anomalous Vertical Deviations in Attempted Abduction Occur in the Majority of Patients With Esotropic Duane Syndrome. ---
21  2018 Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey. NHIS, VAS
22  2018 Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. INa, iPSC-CMs, SUDEP
23  2018 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. ---
24  2018 Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients. ---
25  2018 Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood? V15y
26  2018 Dravet syndrome in South African infants: Tools for an early diagnosis. ---
27  2018 Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis. AEs, CBD, CI, df, LGS, RR
28  2018 Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. SCN1A, STP
29  2018 Emerging drugs for the treatment of Dravet syndrome. CBD
30  2018 Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene. hiPSC
31  2018 Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ASD, ID, LGS
32  2018 Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. iPSC
33  2018 Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome. CLB, STP, TPM, VPA
34  2018 Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening. AEDs
35  2018 Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome. KD, SE
36  2018 Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. SUDEP
37  2018 Somatic mosaic deletions involving SCN1A cause Dravet syndrome. ---
38  2018 Surgical outcome of superior rectus transposition in esotropic Duane syndrome and abducens nerve palsy. MRc, SRT
39  2018 The direct and indirect costs of Dravet Syndrome. ---
40  2018 The genetics and molecular biology of fever-associated seizures or epilepsy. FASE, FS, GEFSP, SV
41  2018 The Problem of Rarity: Estimation of Prevalence in Rare Disease. ---
42  2018 Transposition procedures in Duane retraction syndrome. IRT, SRT, VRT
43  2018 Treatment Strategies for Dravet Syndrome. ---
44  2018 [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. FDG-PET, SUV
45  2017 A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data. EEG, MRI
46  2017 Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome. S/N
47  2017 Audit of use of stiripentol in adults with Dravet syndrome. ---
48  2017 Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1lab Model of Dravet Syndrome. dpf
49  2017 Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome. CBD
50  2017 Cannabinoids in treatment-resistant epilepsy: A review. CBD, LGS, MMJ, THC, TRE
51  2017 Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: a review of its benefit-risk profile in a new patient population. ---
52  2017 Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. ---
53  2017 De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. EEs
54  2017 Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. RE
55  2017 Dravet syndrome and its mimics: Beyond SCN1A. OMIM
56  2017 Dravet syndrome with SCN1B gene mutation: A rare entity. ---
57  2017 Dravet syndrome: Characteristics, comorbidities, and caregiver concerns. DSF
58  2017 Dysarthria and broader motor speech deficits in Dravet syndrome. ---
59  2017 Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. FSs, VGSC
60  2017 Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients. VNS
61  2017 Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases. ---
62  2017 Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. MAFs, mDDPCR
63  2017 Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients. ---
64  2017 Movement-activated cortical myoclonus in Dravet syndrome. CMC, LLRs, SSEPs
65  2017 Pearls and pitfalls in the management of Duane syndrome. ---
66  2017 Pharmacological Analysis of the Anti-epileptic Mechanisms of Fenfluramine in scn1a Mutant Zebrafish. FA, GABA, NAd
67  2017 Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. IPS, PPR
68  2017 Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. ---
69  2017 The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. ---
70  2017 The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research. ---
71  2017 Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective. VNS
72  2017 [Analysis of SCN1A deletions or duplications in patients with Dravet syndrome]. MLPA
73  2017 [Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome]. AE, MRI, SE
74  2017 [Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome]. ddPCR, FS, PGM
75  2016 Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. KI, KO, SUDEP
76  2016 Altered Glycolysis and Mitochondrial Respiration in a Zebrafish Model of Dravet Syndrome. 4-AP, dpf, OCR, SCN1A
77  2016 Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome. CB 2, CBD
78  2016 Cognitive Deficits Associated with Nav1.1 Alterations: Involvement of Neuronal Firing Dynamics and Oscillations. ---
79  2016 Cognitive-behavioral profiles in teenagers with Dravet syndrome. ---
80  2016 Crouch Gait in Dravet Syndrome. ---
81  2016 Disorders of early language development in Dravet syndrome. ---
82  2016 Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation. ---
83  2016 Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome. ---
84  2016 Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes. AEDs, MLPA
85  2016 Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. iPSC
86  2016 Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. ---
87  2016 Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scn1a Mutant Mice. FSs, MES, PTZ, VGSC
88  2016 Mortality in Dravet syndrome. SUDEP
89  2016 Mortality in Dravet syndrome: A review. ---
90  2016 Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. ---
91  2016 Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. CC, SMEI, VNS
92  2016 Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study. CLB, SE, STP, VPA
93  2016 PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. ---
94  2016 Pharmacotherapy for Dravet Syndrome. ---
95  2016 Pitfalls in genetic testing: the story of missed SCN1A mutations. NGS
96  2016 Reflex Seizures Triggered by Diaper Change in Dravet Syndrome. ---
97  2016 Serotonergic Modulation as Effective Treatment for Dravet Syndrome in a Zebrafish Mutant Model. 5-HT, dpf
98  2016 [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]. GTCS
99  2015 Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. ---
100  2015 Autism and behavior in adult patients with Dravet syndrome (DS). ADHD, ASD, PDD-NOS