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The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408, 2019 | 194 | 2019 |
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 92 | 2022 |
Current practice in diagnostic genetic testing of the epilepsies I Krey, K Platzer, A Esterhuizen, SF Berkovic, I Helbig, MS Hildebrand, ... Epileptic Disorders 24 (5), 765-786, 2022 | 55 | 2022 |
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia KL Helbig, UBS Hedrich, DN Shinde, I Krey, AC Teichmann, J Hentschel, ... Annals of neurology 80 (4), 2016 | 54 | 2016 |
Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs TA Benke, K Park, I Krey, CR Camp, R Song, AJ Ramsey, H Yuan, ... Neuropharmacology 199, 108805, 2021 | 39 | 2021 |
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy PK Ahring, VWY Liao, E Gardella, KM Johannesen, I Krey, KK Selmer, ... Brain 145 (4), 1299-1309, 2022 | 37 | 2022 |
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 37 | 2021 |
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ... Genetics in Medicine 23 (8), 1492-1497, 2021 | 35 | 2021 |
L-serine treatment is associated with improvements in behavior, EEG, and seizure frequency in individuals with GRIN-related disorders due to null variants I Krey, S von Spiczak, KM Johannesen, C Hikel, G Kurlemann, H Muhle, ... Neurotherapeutics 19 (1), 334-341, 2022 | 29 | 2022 |
Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 27 | 2020 |
Genotype-phenotype correlation on 45 individuals with West syndrome I Krey, J Krois-Neudenberger, J Hentschel, S Syrbe, T Polster, B Hanker, ... European Journal of Paediatric Neurology 25, 134-138, 2020 | 27 | 2020 |
Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy ER Wengert, CE Tronhjem, JL Wagnon, KM Johannesen, H Petit, I Krey, ... Epilepsia 60 (11), 2277-2285, 2019 | 24 | 2019 |
NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia SN Hayer, I Krey, C Barro, F Rössler, P Körtvelyessy, JR Lemke, J Kuhle, ... Neurology 91 (16), 755-757, 2018 | 14 | 2018 |
Distinct gene-set burden patterns underlie common generalized and focal epilepsies M Koko, R Krause, T Sander, DR Bobbili, M Nothnagel, P May, H Lerche, ... EBioMedicine 72, 2021 | 11 | 2021 |
Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE) C Boßelmann, I Borggräfe, W Fazeli, KM Klein, GJ Kluger, ... Clinical Epileptology 36 (3), 224-237, 2023 | 8 | 2023 |
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ... Genetics in Medicine 25 (1), 76-89, 2023 | 8 | 2023 |
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations R Stevelink, JJ Luykx, BD Lin, C Leu, D Lal, AW Smith, D Schijven, ... Epilepsia 62 (7), 1518-1527, 2021 | 7 | 2021 |
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology H Oppermann, E Marcos-Grañeda, LA Weiss, CA Gurnett, AM Jelsig, ... European Journal of Human Genetics 31 (11), 1251-1260, 2023 | 6 | 2023 |
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke, N Shariatzadeh, ... Communications Biology 6 (1), 952, 2023 | 5 | 2023 |