Detalhe da pesquisa
1.
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Am J Med Genet A
; 194(3): e63453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870493
2.
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Dev Med Child Neurol
; 63(1): 111-115, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895939
3.
Intractable epilepsy due to a rosette-forming glioneuronal tumor with a dysembryoplastic neuroepithelial background.
Neuropathology
; 38(3): 300-304, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29250844
4.
Intraventricular hemorrhage volume and younger age at surgery may be risk factors for postoperative hydrocephalus after hemispherotomy in children.
J Neurosurg Pediatr
; 33(3): 193-198, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157528
5.
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.
Brain Dev
; 45(4): 231-236, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631315
6.
Low EEG Gamma Entropy and Glucose Hypometabolism After Corpus Callosotomy Predicts Seizure Outcome After Subsequent Surgery.
Front Neurol
; 13: 831126, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35401399
7.
Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review.
Pediatr Rep
; 14(4): 386-395, 2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36278550
8.
Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report.
Brain Dev
; 44(8): 551-557, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589488
9.
Corpus callosotomy in pediatric patients with non-lesional epileptic encephalopathy with electrical status epilepticus during sleep.
Epilepsy Behav Rep
; 16: 100463, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195590
10.
Epilepsy surgery in children under 3 years of age: surgical and developmental outcomes.
J Neurosurg Pediatr
; 28(4): 395-403, 2021 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388720
11.
Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS).
Pediatr Neurol
; 114: 1-4, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189023
12.
Cognitive and developmental outcomes after pediatric insular epilepsy surgery for focal cortical dysplasia.
J Neurosurg Pediatr
; 26(5): 543-551, 2020 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764180
13.
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
Brain Dev
; 42(6): 462-467, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173090
14.
Ictal deafness in drug-resistant MRI-negative epilepsy.
Epileptic Disord
; 21(2): 215-220, 2019 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977730
15.
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
Neurol Genet
; 2(5): e95, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27660820