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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H. Weber YG, et al. Among authors: brockmann k. J Clin Invest. 2008 Jun;118(6):2157-68. doi: 10.1172/JCI34438. J Clin Invest. 2008. PMID: 18451999 Free PMC article.
PRRT2 mutations are the major cause of benign familial infantile seizures.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Schubert J, et al. Among authors: brockmann k. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22623405
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Brockmann K, et al. Ann Neurol. 2001 Oct;50(4):476-85. doi: 10.1002/ana.1222. Ann Neurol. 2001. PMID: 11603379
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Kluger G, Muhle H, Møller RS, Platzer K, Santos JL, Bache I, Bertsche A, Bonfert M, Borggräfe I, Broser PJ, Datta AN, Hammer TB, Hartmann H, Hasse-Wittmer A, Henneke M, Kühne H, Lemke JR, Maier O, Matzker E, Merkenschlager A, Opp J, Patzer S, Rostasy K, Stark B, Strzelczyk A, von Stülpnagel C, Weber Y, Wolff M, Zirn B, Hoffmann GF, Kölker S, Syrbe S. Döring JH, et al. Among authors: brockmann k. Biomedicines. 2020 Oct 28;8(11):456. doi: 10.3390/biomedicines8110456. Biomedicines. 2020. PMID: 33126500 Free PMC article.
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T; HEAD Study group; Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z. Tacke M, et al. Among authors: brockmann k. Seizure. 2018 Mar;56:115-120. doi: 10.1016/j.seizure.2018.01.015. Epub 2018 Feb 3. Seizure. 2018. PMID: 29475094 Free article. Clinical Trial.
427 results