Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ... Nature genetics 45 (9), 1067-1072, 2013 | 526 | 2013 |
Gene panel testing in epileptic encephalopathies and familial epilepsies RS Møller, LHG Larsen, KM Johannesen, I Talvik, T Talvik, U Vaher, ... Molecular syndromology 7 (4), 210-219, 2016 | 134 | 2016 |
Mutations in GABRB3 From febrile seizures to epileptic encephalopathies RS Møller, TV Wuttke, I Helbig, C Marini, KM Johannesen, EH Brilstra, ... Neurology 88 (5), 483-492, 2017 | 119 | 2017 |
Cerebral blood‐flow velocities in predicting outcome of asphyxiated newborn infants P Ilves, M Lintrop, T Metsvaht, U Vaher, T Talvik Acta paediatrica 93 (4), 523-528, 2004 | 114 | 2004 |
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen, E Panagiotakaki, ... Brain 145 (11), 3816-3831, 2022 | 84 | 2022 |
De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and … U Vaher, M Nõukas, T Nikopensius, M Kals, T Annilo, M Nelis, K Õunap, ... Journal of child neurology 29 (12), NP202-NP206, 2014 | 83 | 2014 |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy K Reinson, E Õiglane‐Shlik, I Talvik, U Vaher, A Õunapuu, M Ennok, ... American journal of medical genetics Part A 170 (8), 2173-2176, 2016 | 79 | 2016 |
A novel c. 2T> C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability K Õunap, H Puusepp-Benazzouz, M Peters, U Vaher, R Rein, A Proos, ... European journal of medical genetics 55 (3), 178-184, 2012 | 48 | 2012 |
Epilepsy after perinatal stroke with different vascular subtypes R Laugesaar, U Vaher, S Lõo, A Kolk, M Männamaa, I Talvik, ... Epilepsia Open 3 (2), 193-202, 2018 | 41 | 2018 |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature I Talvik, RS Møller, M Vaher, U Vaher, LHG Larsen, HA Dahl, P Ilves, ... Child neurology open 2 (2), 2329048X15583717, 2015 | 40 | 2015 |
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations KM Johannesen, S Iqbal, M Guazzi, NA Mohammadi, E Pérez-Palma, ... Genetics in Medicine 24 (3), 681-693, 2022 | 18 | 2022 |
CDKL5 gene-related epileptic encephalopathy in Estonia: four cases, one novel mutation causing severe phenotype in a boy, and overview of the literature S Lilles, I Talvik, K Noormets, U Vaher, K Õunap, T Reimand, V Sander, ... Neuropediatrics 47 (06), 361-367, 2016 | 16 | 2016 |
Monosomy 1p36–A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities E Õiglane-Shlik, S Puusepp, I Talvik, U Vaher, R Rein, P Tammur, ... European Journal of Paediatric Neurology 18 (3), 338-346, 2014 | 15 | 2014 |
Incidence of childhood epilepsy in Estonia K Veri, I Talvik, U Vaher, A Napa, P Ilves, O Uibo, E Õiglane-Shlik, ... Journal of Child Neurology 33 (9), 587-592, 2018 | 13 | 2018 |
Newly-diagnosed pediatric epilepsy is associated with elevated autoantibodies to glutamic acid decarboxylase but not cardiolipin K Veri, O Uibo, T Talvik, I Talvik, K Metsküla, A Napa, U Vaher, ... Epilepsy research 105 (1-2), 86-91, 2013 | 13 | 2013 |
Language lateralization and outcome in perinatal stroke patients with different vascular types N Ilves, M Männamaa, R Laugesaar, N Ilves, D Loorits, U Vaher, P Kool, ... Brain and language 228, 105108, 2022 | 10 | 2022 |
Four siblings with Hallervorden–Spatz disease U Vaher, A Napa, A Nurmiste, A Piirsoo, H Sibul, T Talvik Brain and Development 23 (4), 236-239, 2001 | 9 | 2001 |
The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke U Vaher, N Ilves, N Ilves, R Laugesaar, M Männamaa, D Loorits, P Kool, ... Frontiers in Neurology 14, 1252472, 2023 | 3 | 2023 |
Eesti ravijuhend „Epilepsia käsitlus fertiilses eas naistel ja rasedatel “ A Rakitin, U Vaher, A Kirss, M Saar, K Kallavus Eesti Arst, 2022 | 1 | 2022 |
General ability and specific cognitive functions are lower in children with epilepsy after perinatal ischemic stroke U Vaher, M Männamaa, R Laugesaar, N Ilves, N Ilves, D Loorits, P Kool, ... Frontiers in Stroke 3, 1371093, 2024 | | 2024 |