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1.
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
Epilepsia
; 2024 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38587282
2.
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.
Neurobiol Dis
; 185: 106261, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37579995
3.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Epilepsia
; 64 Suppl 1: S14-S21, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37021642
4.
Machine learning using multimodal clinical, electroencephalographic, and magnetic resonance imaging data can predict incident depression in adults with epilepsy: A pilot study.
Epilepsia
; 64(10): 2781-2791, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37455354
5.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34431999
6.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906499
7.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33903184
8.
Primary care electronic medical records can be used to predict risk and identify potentially modifiable factors for early and late death in adult onset epilepsy.
Epilepsia
; 62(1): 51-60, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33316095
9.
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
Epilepsia
; 60(6): e67-e73, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31111464
10.
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.
Epilepsia
; 60(8): 1697-1710, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31247127
11.
The role of mTOR inhibitors in preventing epileptogenesis in patients with TSC: Current evidence and future perspectives.
Epilepsy Behav
; 91: 94-98, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29941212
12.
Invasive EEG-electrodes in presurgical evaluation of epilepsies: Systematic analysis of implantation-, video-EEG-monitoring- and explantation-related complications, and review of literature.
Epilepsy Behav
; 91: 30-37, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907526
13.
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.
Epilepsy Behav
; 98(Pt A): 88-95, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31301455
14.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Hum Mutat
; 39(11): 1476-1484, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311377
15.
Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus.
Epilepsia
; 59(8): 1549-1556, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29943451
16.
Trends in resource utilization and prescription of anticonvulsants for patients with active epilepsy in Germany from 2003 to 2013 - A ten-year overview.
Epilepsy Behav
; 83: 28-35, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29649671
17.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
J Med Genet
; 54(9): 598-606, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28756411
18.
Postmarketing experience with brivaracetam in the treatment of epilepsies: A multicenter cohort study from Germany.
Epilepsia
; 58(7): 1208-1216, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28480518
19.
Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches.
Epilepsy Behav
; 76: 7-12, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28917498
20.
Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches.
Epilepsy Behav
; 76: 13-18, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28917501