Detalhe da pesquisa
1.
Epilepsy in Legius syndrome: Coincidence or causation?
Am J Med Genet A
; 194(6): e63547, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268057
2.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
BMC Neurol
; 24(1): 31, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233770
3.
Rapid Implementation of Virtual Health in a Pediatric Neurology Practice During COVID-19.
Can J Neurol Sci
; 48(4): 575-577, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33148364
4.
Pediatric Hyperacute Arterial Ischemic Stroke Pathways at Canadian Tertiary Care Hospitals.
Can J Neurol Sci
; 48(6): 831-838, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568245
5.
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
PLoS Genet
; 14(4): e1007285, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29649218
6.
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
BMC Med Genet
; 20(1): 95, 2019 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151415
7.
Position Statement on the Use of Medical Cannabis for the Treatment of Epilepsy in Canada.
Can J Neurol Sci
; 46(6): 645-652, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31466531
8.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
9.
Increased subcortical oligodendroglia-like cells in pharmacoresistant focal epilepsy in children correlate with extensive epileptogenic zones.
Epilepsia
; 57(12): 2031-2038, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859041
10.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Brain
; 138(Pt 10): 2859-74, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297560
11.
Antithrombotic therapy for secondary stroke prevention in bacterial meningitis in children.
J Pediatr
; 165(4): 799-806, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25063717
12.
Preictal surrender of post-spike slow waves to spike-related high-frequency oscillations (80-200 Hz) is associated with seizure initiation.
Epilepsia
; 55(9): 1399-405, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25070562
13.
Interictal high frequency oscillations correlating with seizure outcome in patients with widespread epileptic networks in tuberous sclerosis complex.
Epilepsia
; 55(10): 1602-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25196064
14.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
HGG Adv
; 5(1): 100259, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041405
15.
STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.
Genes (Basel)
; 14(12)2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137001
16.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Res Sq
; 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609289
17.
Movement Disorders Secondary to Novel Antiseizure Medications in Pediatric Populations: A Systematic Review and Meta-analysis of Risk.
J Child Neurol
; 37(6): 524-533, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35392704
18.
Effect of Training on Visual Identification of High Frequency Oscillations-A Delphi-Style Intervention.
Front Neurol
; 13: 794668, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237228
19.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
20.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35599849