Detalhe da pesquisa
1.
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Neuropediatrics
; 50(5): 327-331, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319423
2.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28391250
3.
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Metab Brain Dis
; 33(1): 261-269, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178011
4.
Management of genetic epilepsies: From empirical treatment to precision medicine.
Pharmacol Res
; 107: 426-429, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27080588
5.
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.
Neuropediatrics
; 50(4): 268-270, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31137068
6.
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.
Neurol Clin Pract
; 14(3): e200287, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38660576
7.
A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
Epilepsia Open
; 8(3): 1142-1150, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840436
8.
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus.
Ital J Pediatr
; 48(1): 118, 2022 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854335
9.
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy.
Cannabis Cannabinoid Res
; 7(2): 199-206, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998856
10.
Current and promising therapeutic options for Dravet syndrome.
Expert Opin Pharmacother
; 23(15): 1727-1736, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124778
11.
Acute Neurological Presentation in Children With SARS-CoV-2 Infection.
Front Pediatr
; 10: 909849, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899136
12.
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series.
Seizure
; 100: 82-86, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780606
13.
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.
Neurol Clin Pract
; 12(5): e124-e128, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380889
14.
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Eur J Paediatr Neurol
; 40: 69-72, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031702
15.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet J Rare Dis
; 17(1): 286, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854306
16.
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Genes (Basel)
; 13(2)2022 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205321
17.
Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder.
J Pediatr Genet
; 10(3): 236-238, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504728
18.
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.
Front Neurol
; 12: 753753, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950099
19.
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Seizure
; 88: 60-72, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831796
20.
Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Pediatr Neurol
; 103: 61-64, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31759783