Detalhe da pesquisa
1.
The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes.
Epilepsy Behav
; 152: 109607, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277852
2.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Cereb Cortex
; 33(17): 9709-9717, 2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429835
3.
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Epilepsia
; 64(7): e148-e155, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37203213
4.
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
Epilepsia
; 64(12): e222-e228, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746765
5.
Long-term effectiveness of add-on perampanel in patients with Lennox-Gastaut syndrome: A multicenter retrospective study.
Epilepsia
; 64(6): e98-e104, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000415
6.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769015
7.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
8.
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Neurogenetics
; 23(1): 27-35, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34731330
9.
Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.
J Neurol Neurosurg Psychiatry
; 2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35879055
10.
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Neurol Sci
; 42(7): 2637-2644, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33929645
11.
FDG-PET assessment and metabolic patterns in Lafora disease.
Eur J Nucl Med Mol Imaging
; 47(6): 1576-1584, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31858178
12.
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Epilepsia
; 61(11): 2474-2485, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063863
13.
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.
Epilepsia
; 61(2): 216-227, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876960
14.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32942014
15.
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
Mov Disord
; 2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643413
16.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
17.
Early clinical and EEG findings associated with the outcome in childhood absence epilepsy.
Epilepsy Behav
; 98(Pt A): 273-278, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419648
18.
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.
Dev Med Child Neurol
; 61(9): 1101-1107, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175679
19.
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Neurobiol Dis
; 118: 55-63, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29936235
20.
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Epilepsia
; 59(12): 2260-2271, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451291