Detalhe da pesquisa
1.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969638
2.
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.
Int J Mol Sci
; 23(21)2022 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362347
3.
The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.
Hum Brain Mapp
; 41(2): 453-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31710770
4.
Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation.
Epilepsia
; 57(6): 896-906, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27093945
5.
Long-term follow-up of nutritional status in children with GLUT1 Deficiency Syndrome treated with classic ketogenic diet: a 5-year prospective study.
Front Nutr
; 10: 1148960, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293674
6.
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Orphanet J Rare Dis
; 18(1): 63, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36944981
7.
Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity.
Epilepsy Behav Rep
; 19: 100544, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35520951
8.
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.
Orphanet J Rare Dis
; 17(1): 365, 2022 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36153584
9.
Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies.
Front Pediatr
; 10: 908518, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36003492
10.
Six-month multidisciplinary follow-up in multisystem inflammatory syndrome in children: An Italian single-center experience.
Front Pediatr
; 10: 1080654, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36776681
11.
KETASER01 protocol: What went right and what went wrong.
Epilepsia Open
; 7(3): 532-540, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833327
12.
Acute encephalitis in pediatric multisystem inflammatory syndrome associated with COVID-19.
Eur J Paediatr Neurol
; 34: 84-90, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34425479
13.
Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).
Mult Scler J Exp Transl Clin
; 7(4): 20552173211059048, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34868629
14.
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
Neuroimage Clin
; 13: 446-454, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116237
15.
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
Brain Dev
; 39(4): 345-348, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27876397
16.
How to Manage Electrical Status Epilepticus in Sleep.
J Clin Neurophysiol
; 33(1): 3-9, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26840869
17.
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
Seizure
; 24: 28-32, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564316