Detalhe da pesquisa
1.
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Epilepsia;
61(4): 679-692, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32167590
2.
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
Epilepsia;
60(8): 1661-1669, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31273778
3.
22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.
Epilepsia;
58(6): 1095-1101, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28448680
4.
Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.
Epilepsia;
58(9): 1502-1517, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28681381
5.
Which patients with epilepsy are at risk for psychogenic nonepileptic seizures (PNES)? A multicenter case-control study.
Epilepsy Behav;
61: 180-184, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27362440
6.
Epilepsy gene panel yield and impact on outcomes for adults with unexplained seizures.
Epilepsia;
61(8): 1797-1798, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32652572
7.
Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.
Am J Med Genet A;
164A(5): 1162-9, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24478273
8.
Epilepsy transition: challenges of caring for adults with childhood-onset seizures.
Epilepsia;
55(10): 1659-66, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25169716
9.
Hemimegalencephaly: what happens when children get older?
Dev Med Child Neurol;
56(9): 905-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24494819
10.
Proposed Pathway for the Utilization of Pediatric Ambulatory EEG.
J Clin Neurophysiol;
40(5): 443-449, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37399043
11.
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.
Neurol Genet;
8(1): e650, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34926809
12.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol;
79(12): 1267-1276, 2022 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36315135
13.
Active Search for Epileptiform Electroencephalogram Activity by External Stimulation in Critically Ill Patients.
Can J Neurol Sci;
43(5): 710-2, 2016 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27626759
14.
Möbius sequence in a girl and arthrogryposis in her half-brother: distinct phenotypes caused by prenatal injuries.
Fetal Pediatr Pathol;
30(4): 260-5, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21434832
15.
Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features.
Pediatr Neurol;
116: 85-94, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33515866
16.
Telehealth for Children With Epilepsy Is Effective and Reduces Anxiety Independent of Healthcare Setting.
Front Pediatr;
9: 642381, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34178881
17.
MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.
Seizure;
67: 86-90, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30922778
18.
Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication.
Seizure;
48: 57-61, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28419948
19.
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
JAMA Neurol;
74(11): 1301-1311, 2017 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28846756
20.
Small changes can make a big difference: Neonates need sugar, but not too much please!
Clin Neurophysiol;
132(1): 216-217, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33272820