Detalhe da pesquisa
1.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Am J Med Genet C Semin Med Genet
; 190(4): 501-509, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448195
2.
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Neuroradiology
; 64(1): 185-195, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34309696
3.
Disorders of early language development in Dravet syndrome.
Epilepsy Behav
; 54: 30-3, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26630186
4.
Behavioral profile in RASopathies.
Am J Med Genet A
; 164A(4): 934-42, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458522
5.
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Epilepsia Open
; 9(1): 258-267, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943120
6.
Visual Function in Children with GNAO1-Related Encephalopathy.
Genes (Basel)
; 14(3)2023 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980817
7.
Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk.
Seizure
; 94: 129-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896816
8.
Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation.
Epilepsy Behav Rep
; 18: 100531, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35356746
9.
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
Behav Genet
; 41(3): 423-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21274610
10.
Cortical Visual Impairment in CDKL5 Deficiency Disorder.
Front Neurol
; 12: 805745, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35153983
11.
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Genes (Basel)
; 12(9)2021 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573299
12.
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
Parkinsonism Relat Disord
; 61: 19-25, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642806
13.
Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy.
Seizure
; 105: 14-16, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645998