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Page 1
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Proepper CR, Schuetz SM, Schwarz LM, Au KV, Bast T, Beaud N, Borggraefe I, Bosch F, Budde J, Busse M, Chung J, Debus O, Diepold K, Fries T, Gersdorff GV, Haeussler M, Hahn A, Hartlieb T, Heiming R, Herkenrath P, Kluger G, Kreth JH, Kurlemann G, Moeller P, Morris-Rosendahl DJ, Panzer A, Philippi H, Ruegner S, Toepfer C, Vieker S, Wiemer-Kruel A, Winter A, Schuierer G, Hehr U, Geis T. Proepper CR, et al. Among authors: borggraefe i. Neuropediatrics. 2024 Dec;55(6):410-419. doi: 10.1055/s-0044-1789014. Epub 2024 Aug 30. Neuropediatrics. 2024. PMID: 39214127
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Among authors: borggraefe i. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Colloid Cyst Causing Massive Headache Attacks.
Zaddach M, Wagner J, Kunz M, Paolini M, Borggraefe I, Heinen F. Zaddach M, et al. Among authors: borggraefe i. Neuropediatrics. 2024 Jun;55(3):215-216. doi: 10.1055/s-0043-1778648. Epub 2024 Feb 5. Neuropediatrics. 2024. PMID: 38316413 No abstract available.
Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy.
Schneider MF, Vogt M, Scheuermann J, Müller V, Fischer-Hentrich AHL, Kremer T, Lugert S, Metzger F, Kudernatsch M, Kluger G, Hartlieb T, Noachtar S, Vollmar C, Kunz M, Tonn JC, Coras R, Blümcke I, Pace C, Heinen F, Klein C, Potschka H, Borggraefe I. Schneider MF, et al. Among authors: borggraefe i. Transl Neurosci. 2024 Jan 23;15(1):20220330. doi: 10.1515/tnsci-2022-0330. eCollection 2024 Jan 1. Transl Neurosci. 2024. PMID: 38283997 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: borggraefe i. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
IQ changes after pediatric epilepsy surgery: a systematic review and meta-analysis.
Schmidlechner T, Zaddach M, Heinen F, Cornell S, Ramantani G, Rémi J, Vollmar C, Kunz M, Borggraefe I. Schmidlechner T, et al. Among authors: borggraefe i. J Neurol. 2024 Jan;271(1):177-187. doi: 10.1007/s00415-023-12002-8. Epub 2023 Sep 28. J Neurol. 2024. PMID: 37770569 Free PMC article. Review.
Precision Therapy in KCNQ2-Related Epilepsy.
Borggraefe I, Wagner M. Borggraefe I, et al. Neuropediatrics. 2023 Oct;54(5):295-296. doi: 10.1055/s-0043-1772667. Epub 2023 Sep 18. Neuropediatrics. 2023. PMID: 37722392 No abstract available.
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