Detalhe da pesquisa
1.
X-Linked Epilepsies: A Narrative Review.
Int J Mol Sci
; 25(7)2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612920
2.
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Int J Mol Sci
; 23(16)2022 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012218
3.
Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome.
Ann Neurol
; 87(5): 763-773, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129908
4.
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
Neurol Sci
; 42(5): 2063-2067, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389251
5.
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
BMC Neurol
; 20(1): 327, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873259
6.
Epilepsy in NF1: a systematic review of the literature.
Childs Nerv Syst
; 36(10): 2333-2350, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613422
7.
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.
Neurocase
; 25(1-2): 62-65, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30991884
8.
Cognitive Profile, Emotional-Behavioral Features, and Parental Stress in Boys With 47,XYY Syndrome.
Cogn Behav Neurol
; 32(2): 87-94, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31205122
9.
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
Am J Med Genet A
; 176(3): 722-726, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283210
10.
Clinical presentation of a stroke-like episode in MELAS syndrome: what is the impact of epileptogenic activity?
Neurol Sci
; 42(8): 3463-3466, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33932178
11.
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
Neurol Sci
; 42(5): 2115-2117, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201365
12.
Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach.
Childs Nerv Syst
; 36(12): 2909-2910, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32734402
13.
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.
Neurol Sci
; 40(7): 1475-1476, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666475
14.
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
Acta Paediatr
; 108(1): 171-172, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30216533
15.
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?
Minerva Pediatr
; 71(4): 391-393, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961341
16.
Low-grade epilepsy-associated tumors: Epilepsy outcome and antiseizure medication discontinuation after lesionectomies as first-line surgical approach in pediatric population.
Epileptic Disord
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700931
17.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Orphanet J Rare Dis
; 19(1): 107, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459574
18.
Immediate and progressive neurological damage after electrical injury: A pediatric case report.
Brain Dev
; 45(1): 87-91, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123197
19.
Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review.
Children (Basel)
; 9(1)2021 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35053647
20.
Neuroendoscopic treatment of symptomatic cyst of the septum pellucidum in children: A case series.
Clin Neurol Neurosurg
; 207: 106671, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34098238