Detalhe da pesquisa
1.
Fostering Education in Epilepsy: A Canadian League Against Epilepsy Teaching Initiative.
Can J Neurol Sci
; : 1-6, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38523490
2.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
3.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191084
4.
An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.
Epilepsy Behav
; 112: 107376, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32882627
5.
Reversal of Benzodiazepine-Induced Myoclonus by Flumazenil in the NICU.
Neuropediatrics
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838738
6.
Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias.
Neuropediatrics
; 52(3): 208-211, 2021 06.
Artigo
em Alemão
| MEDLINE | ID: mdl-33374026
7.
Pharmacodynamic rationale for the choice of antiseizure medications in the paediatric population.
Neurotherapeutics
; 21(3): e00344, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38521667
8.
Myoclonus: Differential diagnosis and current management.
Epilepsia Open
; 9(2): 486-500, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38334331
9.
Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.
Pediatr Neurol
; 148: 148-151, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37722300
10.
Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy.
Cannabis Cannabinoid Res
; 2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36862522
11.
A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
Epilepsia Open
; 8(3): 1142-1150, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840436
12.
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Pediatr Neurol
; 149: 84-92, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37820543
13.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Neurology
; 100(12): e1234-e1247, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599696
14.
Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care - an overview.
Expert Opin Drug Metab Toxicol
; 18(9): 575-585, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36006892
15.
Urinary metabotypes of newborns with perinatal asphyxia undergoing therapeutic hypothermia.
PLoS One
; 17(8): e0273175, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972970
16.
Current and promising therapeutic options for Dravet syndrome.
Expert Opin Pharmacother
; 23(15): 1727-1736, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124778
17.
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
Eur J Med Genet
; 65(11): 104622, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122673
18.
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
Brain Dev
; 44(7): 469-473, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35414446
19.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet J Rare Dis
; 17(1): 286, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854306
20.
Influenza-associated hemolytic uremic syndrome: The pathogenic role of the virus.
Clin Nephrol Case Stud
; 9: 45-48, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884256