Found: 50
Select item for more details and to access through your institution.
Response: Do all individuals with Dravet syndrome have intellectual disability?
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1803, doi. 10.1111/epi.17919
- By:
- Publication type:
- Article
Treatments and Outcomes Among Patients with Sydenham Chorea: A Meta-Analysis.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 4, p. e246792, doi. 10.1001/jamanetworkopen.2024.6792
- By:
- Publication type:
- Article
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
- By:
- Publication type:
- Article
Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome.
- Published in:
- Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcae004
- By:
- Publication type:
- Article
Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 1012, doi. 10.1111/epi.17531
- By:
- Publication type:
- Article
The burden of illness in Lennox–Gastaut syndrome: a systematic literature review.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02626-4
- By:
- Publication type:
- Article
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 1, p. 139, doi. 10.1111/epi.17431
- By:
- Publication type:
- Article
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 4, p. 578, doi. 10.1002/epi4.12624
- By:
- Publication type:
- Article
Precision in child neurology: Networks, systems, and technology.
- Published in:
- 2022
- By:
- Publication type:
- editorial
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1333, doi. 10.1111/epi.17237
- By:
- Publication type:
- Article
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1349, doi. 10.1111/epi.17239
- By:
- Publication type:
- Article
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1398, doi. 10.1111/epi.17241
- By:
- Publication type:
- Article
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1443, doi. 10.1111/epi.17240
- By:
- Publication type:
- Article
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1475, doi. 10.1111/epi.17236
- By:
- Publication type:
- Article
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 6, p. 554, doi. 10.1001/jamaneurol.2022.0829
- By:
- Publication type:
- Article
Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 1, p. 11, doi. 10.1002/epi4.12569
- By:
- Publication type:
- Article
Time to onset of cannabidiol treatment effects in Dravet syndrome: Analysis from two randomized controlled trials.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 9, p. 2218, doi. 10.1111/epi.16974
- By:
- Publication type:
- Article
Insufficient evidence to support the clinical diagnosis of an epileptic seizure.
- Published in:
- 2021
- By:
- Publication type:
- Letter
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 3, p. 615, doi. 10.1111/epi.16815
- By:
- Publication type:
- Article
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
- Published in:
- Epilepsia Open, 2021, v. 6, n. 1, p. 160, doi. 10.1002/epi4.12459
- By:
- Publication type:
- Article
Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond.
- Published in:
- Epilepsia (Series 4), 2020, v. 60, p. S59, doi. 10.1111/epi.14935
- By:
- Publication type:
- Article
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 3, p. 387, doi. 10.1111/epi.16438
- By:
- Publication type:
- Article
SCN1A variants from bench to bedside—improved clinical prediction from functional characterization.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 363, doi. 10.1002/humu.23943
- By:
- Publication type:
- Article
Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 3, p. S59, doi. 10.1111/epi.14935
- By:
- Publication type:
- Article
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 7, p. 1372, doi. 10.1111/epi.14438
- By:
- Publication type:
- Article
Sleep, oxygen saturation, and seizures in Dravet syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Dravet syndrome and its mimics: Beyond SCN1A.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 11, p. 1807, doi. 10.1111/epi.13889
- By:
- Publication type:
- Article
Response to the numbering of seizure types.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1300, doi. 10.1111/epi.13800
- By:
- Publication type:
- Article
A new classification is born.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 4, p. 511, doi. 10.1111/epi.13694
- By:
- Publication type:
- Article
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 4, p. 512, doi. 10.1111/epi.13709
- By:
- Publication type:
- Article
Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 4, p. 522, doi. 10.1111/epi.13670
- By:
- Publication type:
- Article
Instruction manual for the ILAE 2017 operational classification of seizure types.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 4, p. 531, doi. 10.1111/epi.13671
- By:
- Publication type:
- Article
Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 10, p. 1477, doi. 10.1111/epi.13105
- By:
- Publication type:
- Article
Atualização sobre o diagnóstico e tratamento de epilepsias da infância.
- Published in:
- Jornal de Pediatria, 2015, v. 91, n. 6, p. S67, doi. 10.1016/j.jped.2015.07.003
- By:
- Publication type:
- Article
In response: Evaluating the care of a multidisciplinary clinic by using the White Paper 'Listening for a change: Medical and social needs of people with intellectual disability who have epilepsy'.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 9, p. 1473, doi. 10.1111/epi.13099
- By:
- Publication type:
- Article
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 7, p. 1071, doi. 10.1111/epi.13020
- By:
- Publication type:
- Article
ICD coding for epilepsy: Past, present, and future-A report by the International League Against Epilepsy Task Force on ICD codes in epilepsy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 3, p. 348, doi. 10.1111/epi.12895
- By:
- Publication type:
- Article
A White Paper on the medical and social needs of people with epilepsy and intellectual disability: The Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 12, p. 1902, doi. 10.1111/epi.12848
- By:
- Publication type:
- Article
Dravet syndrome-From epileptic encephalopathy to channelopathy.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 979, doi. 10.1111/epi.12652
- By:
- Publication type:
- Article
The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 10, p. 966, doi. 10.1111/dmcn.12192
- By:
- Publication type:
- Article
Treatment of behavioral problems in intellectually disabled adult patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, p. 34, doi. 10.1111/epi.12103
- By:
- Publication type:
- Article
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 154, doi. 10.1111/dmcn.12030
- By:
- Publication type:
- Article
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 10, p. 2982, doi. 10.1093/brain/awr129
- By:
- Publication type:
- Article
Comorbidities and predictors of health-related quality of life in Dravet syndrome.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 8, p. 1476, doi. 10.1111/j.1528-1167.2011.03129.x
- By:
- Publication type:
- Article
A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 4, p. 503, doi. 10.1177/0883073808324537
- By:
- Publication type:
- Article
The spectrum of SCN1A-related infantile epileptic encephalopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 843
- By:
- Publication type:
- Article
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 801, doi. 10.1038/ng1814
- By:
- Publication type:
- Article
Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 4, p. 613, doi. 10.1046/j.1528-1157.2003.20102.x
- By:
- Publication type:
- Article