Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 111(6): 1184-1205, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
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
3.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
4.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
5.
Time to onset of cannabidiol treatment effects in Dravet syndrome: Analysis from two randomized controlled trials.
Epilepsia
; 62(9): 2218-2227, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265088
6.
Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.
Epilepsia
; 62(9): 2228-2239, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287833
7.
Cannabidiol in conjunction with clobazam: analysis of four randomized controlled trials.
Acta Neurol Scand
; 143(2): 154-163, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969022
8.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093711
9.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262923
10.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158694
11.
Cannabidiol in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Epilepsia
; 60(3): 419-428, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740695
12.
Outcomes and comorbidities of SCN1A-related seizure disorders.
Epilepsy Behav
; 90: 252-259, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30527252
13.
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Epilepsia
; 59(6): 1154-1165, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750338
14.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460957
15.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
16.
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Epilepsia
; 56(9): e114-20, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122718
17.
Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?
Epilepsy Behav
; 47: 39-44, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26021464
18.
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy.
Epilepsy Res
; 191: 107112, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36870093
19.
A Phase II Randomized Trial to Explore the Potential for Pharmacokinetic Drug-Drug Interactions with Stiripentol or Valproate when Combined with Cannabidiol in Patients with Epilepsy.
CNS Drugs
; 34(6): 661-672, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350749
20.
Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial.
JAMA Neurol
; 77(5): 613-621, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32119035