Detalhe da pesquisa
1.
Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to low-voltage-fast onset seizures in Dravet syndrome.
Proc Natl Acad Sci U S A
; 121(23): e2316364121, 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38809712
2.
Natural history of rare diseases using natural language processing of narrative unstructured electronic health records: The example of Dravet syndrome.
Epilepsia
; 65(2): 350-361, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38065926
3.
Fifteen years of real-world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome.
Epilepsia
; 65(2): 430-444, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872396
4.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia
; 65(4): 1046-1059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410936
5.
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
Epilepsia
; 65(3): 533-541, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279786
6.
Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approach.
Br J Clin Pharmacol
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664899
7.
Transition in epilepsy - A pilot study with patients in and outside of academic centers.
Epilepsy Behav
; 151: 109624, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219605
8.
Dravet syndrome seizure frequency and clustering: Placebo-treated patients in clinical trials.
Epilepsy Behav
; 155: 109774, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643658
9.
Placebo response in patients with Dravet syndrome: Post-hoc analysis of two clinical trials.
Epilepsy Behav
; 156: 109805, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38677101
10.
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Epilepsia
; 64(1): 139-151, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196777
11.
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.
Epilepsia
; 64(10): 2653-2666, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543865
12.
The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance.
Eur Radiol
; 33(1): 196-206, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066730
13.
Clinical and radiological description of 120 pediatric stroke-like episodes.
Eur J Neurol
; 30(7): 2051-2061, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046408
14.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
15.
Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Children with Focal Cortical Dysplasias: Initial Findings in Surgically Confirmed Cases.
Neuropediatrics
; 54(3): 188-196, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223876
16.
Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment.
Epilepsy Behav
; 138: 108994, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36463826
17.
Initiating stiripentol before 2 years of age in patients with Dravet syndrome is safe and beneficial against status epilepticus.
Dev Med Child Neurol
; 65(12): 1607-1616, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198755
18.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Ann Neurol
; 89(2): 304-314, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180985
19.
Recognizing seizure clusters in the community: The path to uniformity and individualization in nomenclature and definition.
Epilepsia
; 63 Suppl 1: S6-S13, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999176
20.
International consensus on diagnosis and management of Dravet syndrome.
Epilepsia
; 63(7): 1761-1777, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35490361