Detalhe da pesquisa
1.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
2.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
3.
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
BMC Neurol
; 24(1): 172, 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38783254
4.
Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.
Epilepsy Behav
; 153: 109688, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428171
5.
Current treatment options for familial adult myoclonus epilepsy.
Epilepsia
; 64 Suppl 1: S58-S63, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947106
6.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35786744
7.
Risk of hospitalization and death for COVID-19 in persons with epilepsy over a 20-month period: The EpiLink Bologna cohort, Italy.
Epilepsia
; 63(9): 2279-2289, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35778963
8.
If seizures left speechless: CA-P-S C-A-R-E, a proposal of a new ictal language evaluation protocol.
Neurol Sci
; 42(8): 3249-3255, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247321
9.
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Clin Genet
; 98(5): 477-485, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725632
10.
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
11.
Seizures with paroxysmal arousals in sleep-related hypermotor epilepsy (SHE): Dissecting epilepsy from NREM parasomnias.
Epilepsia
; 61(10): 2194-2202, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949468
12.
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
13.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158694
14.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093711
15.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262923
16.
Sleep-related hypermotor epilepsy: A prediction cohort study on sleep/awake patterns of seizures.
Epilepsia
; 60(11): e115-e120, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612464
17.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Ann Neurol
; 81(5): 677-689, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28380698
18.
Epilepsy with auditory features: Long-term outcome and predictors of terminal remission.
Epilepsia
; 59(4): 834-843, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464704
19.
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
20.
GATOR1 complex: the common genetic actor in focal epilepsies.
J Med Genet
; 53(8): 503-10, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208208