Detalhe da pesquisa
1.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
2.
Prediction tools and risk stratification in epilepsy surgery.
Epilepsia
; 65(2): 414-421, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38060351
3.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
4.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Epilepsia
; 64(8): e170-e176, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114479
5.
Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations.
Epilepsy Behav
; 140: 109105, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758358
6.
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Neurol Sci
; 44(6): 2173-2176, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913149
7.
Web-based decision support system for patient-tailored selection of antiseizure medication in adolescents and adults: An external validation study.
Eur J Neurol
; 29(2): 382-389, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741372
8.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
9.
Pseudoresistance in idiopathic/genetic generalized epilepsies - Definitions, risk factors, and outcome.
Epilepsy Behav
; 130: 108633, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35306367
10.
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.
Int J Mol Sci
; 23(23)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36499459
11.
Optimal choice of antiseizure medication: Agreement among experts and validation of a web-based decision support application.
Epilepsia
; 62(1): 220-227, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280100
12.
A web-based algorithm to rapidly classify seizures for the purpose of drug selection.
Epilepsia
; 62(10): 2474-2484, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420206
13.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293671
14.
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Int J Mol Sci
; 22(6)2021 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33802230
15.
A pragmatic algorithm to select appropriate antiseizure medications in patients with epilepsy.
Epilepsia
; 61(8): 1668-1677, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32697354
16.
Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Epilepsia
; 61(6): 1234-1239, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427350
17.
Standard procedures for the diagnostic pathway of sleep-related epilepsies and comorbid sleep disorders: A European Academy of Neurology, European Sleep Research Society and International League against Epilepsy-Europe consensus review.
J Sleep Res
; 29(6): e13184, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959468
18.
A European questionnaire survey on epilepsy monitoring units' current practice for postoperative psychogenic nonepileptic seizures' detection.
Epilepsy Behav
; 112: 107355, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32745960
19.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158694
20.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093711