Detalhe da pesquisa
1.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
2.
Relationship between plasma concentrations and clinical effects of perampanel: A prospective observational study.
Epilepsy Behav
; 112: 107385, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32858369
3.
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy.
Epilepsia
; 59(7): e103-e108, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897632
4.
Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches.
J Headache Pain
; 19(1): 108, 2018 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30428826
5.
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ann Neurol
; 79(1): 120-31, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26505888
6.
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
7.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461
8.
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Mol Genet Genomic Med
; 12(1): e2311, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087948
9.
Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review.
Epileptic Disord
; 25(3): 410-415, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938875
10.
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
11.
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Disabil Rehabil
; 44(18): 4966-4973, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010585
12.
Cannabidiol in Pharmacoresistant Epilepsy: Clinical Pharmacokinetic Data From an Expanded Access Program.
Front Pharmacol
; 12: 637801, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33746760
13.
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.
Front Neurol
; 12: 673135, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093420
14.
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Eur J Paediatr Neurol
; 28: 193-197, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651081
15.
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report.
Epilepsia
; 50(6): 1638-40, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19175389
16.
Prognostic factors in patients with mesial temporal lobe epilepsy.
Epilepsia
; 50 Suppl 1: 41-4, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19125847
17.
Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes.
Front Neurol
; 10: 1316, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920937
18.
Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene.
J Pediatr Neurosci
; 13(4): 496-499, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937099
19.
Breathing instability in Joubert syndrome.
Mov Disord
; 27(1): 64, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095738
20.
Epilepsy in patients with pervasive developmental disorder not otherwise specified.
J Child Neurol
; 22(10): 1198-203, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17940246