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Ilona Krey
Ilona Krey
Institute of Human Genetics, University of Leipzig Medical Center
Verified email at medizin.uni-leipzig.de
Title
Cited by
Cited by
Year
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2302019
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
1882019
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
822022
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
522016
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
482022
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
372022
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
362021
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
332021
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
332021
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
272022
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
272020
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
262020
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
232019
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
132018
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
102021
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
72021
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
62023
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
52023
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
52023
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
S Neuser, I Krey, A Schwan, R Abou Jamra, T Bartolomaeus, J Döring, ...
European Journal of Human Genetics 30 (1), 101-110, 2022
42022
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