Articles with public access mandates - Ingo HelbigLearn more
Not available anywhere: 17
Review
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF De Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
Mandates: Research Foundation (Flanders), National Institute of Health and Medical …
Review
Consensus on diagnosis and management of JME: from founder's observations to current trends
DGAKN Trenité, B Schmitz, D Janz, AV Delgado-Escueta, P Thomas, ...
Epilepsy & Behavior 28, S87-S90, 2013
Mandates: US National Institutes of Health
Review
Precision medicine in genetic epilepsies: break of dawn?
PS Reif, MH Tsai, I Helbig, F Rosenow, KM Klein
Expert review of neurotherapeutics 17 (4), 381-392, 2017
Mandates: German Research Foundation, Federal Ministry of Education and Research, Germany
Review
Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus
H Goldberg-Stern, S Aharoni, Z Afawi, O Bennett, S Appenzeller, ...
Journal of child neurology 29 (2), 221-226, 2014
Mandates: German Research Foundation
Review
Personalized medicine in genetic epilepsies–possibilities, challenges, and new frontiers
I Helbig, CA Ellis
Neuropharmacology 172, 107970, 2020
Mandates: US National Institutes of Health, German Research Foundation
Review
Epileptic Encephalopathies—clinical syndromes and pathophysiological concepts
M von Deimling, I Helbig, ED Marsh
Current neurology and neuroscience reports 17, 1-10, 2017
Mandates: US National Institutes of Health, German Research Foundation, Federal …
Review
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2
L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ...
Human genetics 135, 1117-1125, 2016
Mandates: National Health and Medical Research Council, Australia
Review
Investigation of GRIN2A in common epilepsy phenotypes
D Lal, S Steinbrücker, J Schubert, T Sander, F Becker, Y Weber, H Lerche, ...
Epilepsy research 115, 95-99, 2015
Mandates: Austrian Science Fund, German Research Foundation
Review
Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis
H Muhle, S von Spiczak, V Gaus, S Kara, I Helbig, J Hampe, A Franke, ...
Epilepsy research 89 (2-3), 319-326, 2010
Mandates: German Research Foundation
Review
Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies
A Baumgart, S Spiczak, NM Verhoeven-Duif, RS Møller, R Boor, H Muhle, ...
Journal of Child Neurology 29 (5), 704-707, 2014
Mandates: German Research Foundation
Review
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures
KM Klein, M Pendziwiat, A Eilam, R Gilad, I Blatt, F Rosenow, M Kanaan, ...
Journal of Neurology 264, 1421-1425, 2017
Mandates: German Research Foundation
Review
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
C Marini, K Hardies, T Pisano, P May, S Weckhuysen, E Cellini, A Suls, ...
American Journal of Medical Genetics Part A 173 (4), 1119-1123, 2017
Mandates: Research Foundation (Flanders)
Review
The role of SLC2A1 in early onset and childhood absence epilepsies
H Muhle, I Helbig, TG Frøslev, A Suls, S von Spiczak, LL Klitten, HA Dahl, ...
Epilepsy research 105 (1-2), 229-233, 2013
Mandates: Research Foundation (Flanders)
Review
Whole-exome sequencing in NF1-related west syndrome leads to the identification of KCNC2 as a novel candidate gene for epilepsy
A Rademacher, N Schwarz, S Seiffert, M Pendziwiat, A Rohr, ...
Neuropediatrics 51 (05), 368-372, 2020
Mandates: German Research Foundation
Review
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
AT Morgan, TS Scerri, AP Vogel, CA Reid, M Quach, VE Jackson, ...
Brain 146 (12), 5086-5097, 2023
Mandates: National Health and Medical Research Council, Australia
Review
Cleft palate as distinguishing feature in a patient with GABRB3 epileptic encephalopathy
D Bamborschke, M Pergande, HS Daimagueler, E Mangold, J Doetsch, ...
Neuropediatrics 50 (06), 378-381, 2019
Mandates: German Research Foundation
Review
Molecular and Phenotypic Characterization of the RORB-Related Disorder
Z Gokce-Samar, A Vetro, J De Bellescize, T Pisano, L Monteiro, N Penaud, ...
Neurology 102 (2), e207945, 2024
Mandates: Agence Nationale de la Recherche
Available somewhere: 198
Review
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
Mandates: US National Institutes of Health, German Research Foundation, British Heart …
Review
The human phenotype ontology in 2021
S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ...
Nucleic acids research 49 (D1), D1207-D1217, 2021
Mandates: US Department of Energy, US National Institutes of Health, German Research …
Review
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160-162, 2009
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, German …
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