2016

Domann, E., F. Fischer, F. Glowatzki, M. Fritzenwanker, T. Hain, S. Zechel-Gran, S. Giffhorn-Katz, and B. A. Neubauer. Draft Genome Sequence of Lactobacillus Delbrueckii Strain #22 Isolated from a Patient with Short Bowel Syndrome and Previous D-Lactic Acidosis and Encephalopathy. Genome Announc 4, no. 4 (2016).

Graf, K., T. Kohl, B. A. Neubauer, F. Dey, D. Faas, F. A. Wanis, M. H. Reinges, E. Uhl, and M. A. Kolodziej. Percutaneous Minimally Invasive Fetoscopic Surgery for Spina Bifida Aperta. Part Iii: Neurosurgical Intervention in the First Postnatal Year. Ultrasound Obstet Gynecol 47, no. 2 (2016): 158-61.

Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U.LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev. 2016 38:399-406

Lemke, J. R., K. Geider, K. L. Helbig, H. O. Heyne, H. Schutz, J. Hentschel, C. Courage, C. Depienne, C. Nava, D. Heron, R. S. Moller, H. Hjalgrim, D. Lal, B. A. Neubauer, P. Nurnberg, H. Thiele, G. Kurlemann, G. L. Arnold, V. Bhambhani, D. Bartholdi, C. R. Pedurupillay, D. Misceo, E. Frengen, P. Stromme, D. J. Dlugos, E. S. Doherty, E. K. Bijlsma, C. A. Ruivenkamp, M. J. Hoffer, A. Goldstein, D. S. Rajan, V. Narayanan, K. Ramsey, N. Belnap, I. Schrauwen, R. Richholt, B. P. Koeleman, J. Sa, C. Mendonca, C. G. de Kovel, S. Weckhuysen, K. Hardies, P. De Jonghe, L. De Meirleir, M. Milh, C. Badens, M. Lebrun, T. Busa, C. Francannet, A. Piton, E. Riesch, S. Biskup, H. Vogt, T. Dorn, I. Helbig, J. L. Michaud, B. Laube, and S. Syrbe. Delineating the Grin1 Phenotypic Spectrum: A Distinct Genetic Nmda Receptor Encephalopathy. Neurology 86, no. 23 (2016): 2171-8.

Schwarz, N., A. Hahn, T. Bast, S. Muller, H. Loffler, S. Maljevic, E. Gaily, I. Prehl, S. Biskup, T. Joensuu, A. E. Lehesjoki, B. A. Neubauer, H. Lerche, and U. B. S. Hedrich. Mutations in the Sodium Channel Gene Scn2a Cause Neonatal Epilepsy with Late-Onset Episodic Ataxia. J Neurol 263, no. 2 (2016): 334-343.

Strzelczyk, A., G. Zschebek, S. Bauer, C. Baumgartner, M. Grond, A. Hermsen, M. Kieslich, G. Kramer, G. Kurlemann, T. W. May, T. Mayer, B. A. Neubauer, M. Pfafflin, B. Plecko, P. Ryvlin, S. Schubert-Bast, H. Stefan, E. Trinka, S. Knake, C. Seifart, and F. Rosenow. Predictors of and Attitudes toward Counseling About Sudep and Other Epilepsy Risk Factors among Austrian, German, and Swiss Neurologists and Neuropediatricians. Epilepsia 57, no. 4 (2016): 612-20.

Tacke, M., L. Gerstl, F. Heinen, I. Heukaeufer, M. Bonfert, T. Bast, S. Cornell, B. A. Neubauer, and I. Borggraefe. Effect of Anticonvulsive Treatment on Neuropsychological Performance in Children with Bects. Eur J Paediatr Neurol 20, no. 6 (2016): 874-879.

Neubauer, B. A., and J. R. Lemke. From Genetics to Genomics: A Short Introduction for Pediatric Neurologists. Neuropediatrics 47, no. 1 (2016): 5-11.

Pal, D. K., C. Ferrie, L. Addis, T. Akiyama, G. Capovilla, R. Caraballo, A. de Saint-Martin, N. Fejerman, R. Guerrini, K. Hamandi, I. Helbig, A. A. Ioannides, K. Kobayashi, D. Lal, G. Lesca, H. Muhle, B. A. Neubauer, T. Pisano, G. Rudolf, C. Seegmuller, T. Shibata, A. Smith, P. Striano, L. J. Strug, P. Szepetowski, T. Valeta, H. Yoshinaga, and M. Koutroumanidis. Idiopathic Focal Epilepsies: The "Lost Tribe". Epileptic Disord 18, no. 3 (2016): 252-88.

Lechner C, Baumann M, Hennes EM, Schanda K, Marquard K, Karenfort M, Leiz S, Pohl D, Venkateswaran S, Pritsch M, Koch J, Schimmel M, Häusler M, Klein A, Blaschek A, Thiels C, Lücke T, Gruber-Sedlmayr U, Kornek B, Hahn A, Leypoldt F, Sandrieser T, Gallwitz H, Stoffels J, Korenke C, Reindl M, Rostásy K. Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease. J Neurol Neurosurg Psychiatry. 2016 87: 897-905

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UB Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2016 263:334-343.

Neubauer BA, Hahn A. Neue Erkenntnisse in der Entstehung fokaler genetisch bedingter Epilepsiesyndrome. Z Epileptol 2016

Lal, D., E. M. Reinthaler, B. Dejanovic, P. May, H. Thiele, A. E. Lehesjoki, G. Schwarz, E. Riesch, M. A. Ikram, C. M. van Duijn, A. G. Uitterlinden, A. Hofman, H. Steinbock, U. Gruber-Sedlmayr, B. Neophytou, F. Zara, A. Hahn, P. Gormley, F. Becker, Y. G. Weber, M. R. Cilio, W. S. Kunz, R. Krause, F. Zimprich, J. R. Lemke, P. Nurnberg, T. Sander, H. Lerche, and B. A. Neubauer. Evaluation of Presumably Disease Causing Scn1a Variants in a Cohort of Common Epilepsy Syndromes. PLoS One 11, no. 3 (2016): e0150426.

Lal, D., B. A. Neubauer, M. R. Toliat, J. Altmuller, H. Thiele, P. Nurnberg, C. Kamrath, A. Schanzer, T. Sander, A. Hahn, and M. Nothnagel. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One 11, no. 1 (2016): e0146040.

Spors H, Merz C, Dießel J, Dutzmann CM, Neubauer BA, Hahn A. Sulcal artery syndrome in a 10-year-old boy. Neuropediatrics 2016 47: 202-2044

Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genetics in Medicine 2016 18:1226-1234

Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A. Chudley-McCullough-Syndrome – variable clinical picture in twins and novel GPSM2 mutation. Neuropediatrics 2016 47:197-201

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One. 2016 11:e0150426

Rommel FR, Spors H, Grzybowski M, Hahn A, Neubauer BA. Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1. Neuropediatrics. 2016 47:278-9.

Schänzer A, Faas D, Rust S, Podskarbi T, van Kuilenburg AB, Scarpa M, Kunze A, Marquardt T, Hahn A Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). Klin Padiatr. 2016 228: 277-279

Lehmann A, D'Errico A, Vogel M, Spors H. Spatio-Temporal Characteristics of Inhibition Mapped by Optical Stimulation in Mouse Olfactory Bulb. Front Neural Circuits. 2016 Mar 22; 10:15. doi: 10.3389/fncir.2016.00015. PMID: 27047340