Detalhe da pesquisa
1.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579670
2.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526744
3.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
4.
Ethosuximide lowers lamotrigine serum concentrations: Evidence for a clinically relevant interaction.
Epilepsia
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38606683
5.
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
Epilepsia
; 65(1): 115-126, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37846648
6.
Biophysical characterization and modelling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity.
Neurobiol Dis
; 179: 106059, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868483
7.
Hemispherotomy in children: A retrospective analysis of 152 surgeries at a single center and predictors for long-term seizure outcome.
Epilepsia
; 64(7): 1800-1811, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114902
8.
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.
Epilepsia
; 64(10): 2653-2666, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543865
9.
DNA methylation-based classification of malformations of cortical development in the human brain.
Acta Neuropathol
; 143(1): 93-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797422
10.
Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases.
Epilepsy Behav
; 126: 108479, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922328
11.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
12.
Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3.
Epilepsia
; 62(12): 3029-3041, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34693520
13.
Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany.
Epilepsia
; 62(10): 2518-2527, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34378197
14.
Hyperkinetic Seizures with Ictal Fear as Localizing Ictal Signs in MRI-Negative Medial Frontal Lobe Epilepsy.
Neuropediatrics
; 52(1): 44-47, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32842161
15.
Epilepsy associated with tuberous sclerosis complex in childhood: Long-term outcome in children after epilepsy surgery and children non-eligible for epilepsy surgery.
Epilepsy Behav
; 122: 108210, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34311180
16.
Reading and the visual word form area (VWFA) - Management and clinical experience at one epilepsy surgery center.
Epilepsy Behav
; 124: 108274, 2021 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536734
17.
Improved everyday executive functioning following profound reduction in seizure frequency with fenfluramine: Analysis from a phase 3 long-term extension study in children/young adults with Dravet syndrome.
Epilepsy Behav
; 121(Pt A): 108024, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023810
18.
Treatment with fenfluramine in patients with Dravet syndrome has no long-term effects on weight and growth.
Epilepsy Behav
; 122: 108212, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352670
19.
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lancet
; 394(10216): 2243-2254, 2019 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31862249
20.
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Acta Neuropathol
; 140(6): 881-891, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979071