| Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) PB Mills, EJ Footitt, KA Mills, K Tuschl, S Aylett, S Varadkar, C Hemingway, ... Brain 133 (7), 2148-2159, 2010 | 299 | 2010 |
| Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial FJK O'Callaghan, SW Edwards, FD Alber, E Hancock, AL Johnson, ... The Lancet Neurology 16 (1), 33-42, 2017 | 282 | 2017 |
| Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features NI Wolf, S Rahman, B Schmitt, JW Taanman, AJ Duncan, I Harting, ... Epilepsia 50 (6), 1596-1607, 2009 | 172 | 2009 |
| Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy GF Hoffmann, B Schmitt, M Windfuhr, N Wagner, H Strehl, S Bagci, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 160 | 2007 |
| Impaired slow wave sleep downscaling in encephalopathy with status epilepticus during sleep (ESES) BK Bölsterli, B Schmitt, T Bast, H Critelli, J Heinzle, OG Jenni, R Huber Clinical Neurophysiology 122 (9), 1779-1787, 2011 | 152 | 2011 |
| Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial FJK O'Callaghan, SW Edwards, FD Alber, MC Borja, E Hancock, ... The Lancet Child & Adolescent Health 2 (10), 715-725, 2018 | 142 | 2018 |
| Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? A Bottani, WP Robinson, CD DeLozier‐Blanchet, E Engel, MA Morris, ... American journal of medical genetics 51 (1), 35-40, 1994 | 131 | 1994 |
| Oxidative stress precedes peak systemic inflammatory response in pediatric patients undergoing cardiopulmonary bypass operation S Christen, B Finckh, J Lykkesfeldt, P Gessler, M Frese-Schaper, ... Free Radical Biology and Medicine 38 (10), 1323-1332, 2005 | 130 | 2005 |
| Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy B Plecko, C Hikel, GC Korenke, B Schmitt, M Baumgartner, F Baumeister, ... Neuropediatrics 36 (03), 200-205, 2005 | 123 | 2005 |
| Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency B Schmitt, M Baumgartner, PB Mills, PT Clayton, C Jakobs, E Keller, ... Developmental medicine & child neurology 52 (7), e133-e142, 2010 | 122 | 2010 |
| Prognostic value of plasma N-terminal pro-brain natriuretic peptide in children with congenital heart defects and open-heart surgery P Gessler, W Knirsch, B Schmitt, V Rousson, A von Eckardstein The Journal of pediatrics 148 (3), 372-376, 2006 | 100 | 2006 |
| In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome D Wolff, S Endele, S Azzarello-Burri, J Hoyer, M Zweier, I Schanze, ... Molecular syndromology 2 (6), 237-244, 2012 | 91 | 2012 |
| Confirmation of mutations in PROSC as a novel cause of vitamin B 6-dependent epilepsy B Plecko, M Zweier, A Begemann, D Mathis, B Schmitt, P Striano, ... Journal of medical genetics 54 (12), 809-814, 2017 | 89 | 2017 |
| Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy A Müller, I Helbig, C Jansen, T Bast, R Guerrini, J Jähn, H Muhle, S Auvin, ... european journal of paediatric neurology 20 (1), 147-151, 2016 | 82 | 2016 |
| The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study SM Papuc, L Abela, K Steindl, A Begemann, TL Simmons, B Schmitt, ... European journal of human genetics 27 (3), 408-421, 2019 | 79 | 2019 |
| Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia V Eulenburg, K Becker, J Gomeza, B Schmitt, CM Becker, H Betz Biochemical and biophysical research communications 348 (2), 400-405, 2006 | 79 | 2006 |
| Spike wave location and density disturb sleep slow waves in patients with CSWS (continuous spike waves during sleep) BK Bölsterli Heinzle, S Fattinger, S Kurth, MK LeBourgeois, M Ringli, ... Epilepsia 55 (4), 584-591, 2014 | 78 | 2014 |
| The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS) JP Osborne, SW Edwards, F Dietrich Alber, E Hancock, AL Johnson, ... Epilepsia 60 (9), 1861-1869, 2019 | 77 | 2019 |
| Long-term outcome of ten children with opsoclonus-myoclonus syndrome A Klein, B Schmitt, E Boltshauser European journal of pediatrics 166, 359-363, 2007 | 77 | 2007 |
| Neonatal seizures—are we there yet? G Ramantani, B Schmitt, B Plecko, RM Pressler, G Wohlrab, ... Neuropediatrics 50 (05), 280-293, 2019 | 74 | 2019 |
