TY - JOUR AU - McTague, A. AU - Howell, K. B. AU - Cross, J. H. AU - Kurian, M. A. AU - Scheffer, I. E. PY - 2016 DA - 2016// TI - The genetic landscape of the epileptic encephalopathies of infancy and childhood JO - Lancet Neurol VL - 15 UR - https://doi.org/10.1016/S1474-4422(15)00250-1 DO - 10.1016/S1474-4422(15)00250-1 ID - McTague2016 ER - TY - JOUR AU - Hussain, S. A. PY - 2018 DA - 2018// TI - Epileptic Encephalopathies JO - Continuum (Minneap Minn) VL - 24 ID - Hussain2018 ER - TY - JOUR AU - Guerreiro, C. A. PY - 2016 DA - 2016// TI - Epilepsy: is there hope? JO - Indian J Med Res VL - 144 UR - https://doi.org/10.4103/ijmr.IJMR_1051_16 DO - 10.4103/ijmr.IJMR_1051_16 ID - Guerreiro2016 ER - TY - JOUR AU - Bartholdi, D. AU - Stray-Pedersen, A. AU - Azzarello-Burri, S. AU - Kibaek, M. AU - Kirchhoff, M. AU - Oneda, B. PY - 2014 DA - 2014// TI - A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes JO - Am J Med Genet A VL - 164A UR - https://doi.org/10.1002/ajmg.a.36439 DO - 10.1002/ajmg.a.36439 ID - Bartholdi2014 ER - TY - JOUR AU - Drummond-Borg, M. AU - Kulharya, A. S. AU - Tonk, V. AU - Garcia-Heras, J. PY - 2002 DA - 2002// TI - Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter JO - Am J Med Genet VL - 107 UR - https://doi.org/10.1002/ajmg.10126 DO - 10.1002/ajmg.10126 ID - Drummond-Borg2002 ER - TY - JOUR AU - Ballarati, L. AU - Rossi, E. AU - Bonati, M. T. AU - Gimelli, S. AU - Maraschio, P. AU - Finelli, P. PY - 2007 DA - 2007// TI - 13q deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients JO - J Med Genet VL - 44 UR - https://doi.org/10.1136/jmg.2006.043059 DO - 10.1136/jmg.2006.043059 ID - Ballarati2007 ER - TY - JOUR AU - Kaloustian, V. M. AU - Russell, L. AU - Aradhya, S. AU - Richard, G. AU - Rosenblatt, B. AU - Melançon, S. PY - 2011 DA - 2011// TI - A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features JO - Am J Med Genet A VL - 155A UR - https://doi.org/10.1002/ajmg.a.34198 DO - 10.1002/ajmg.a.34198 ID - Kaloustian2011 ER - TY - JOUR AU - Cirillo, E. AU - Romano, R. AU - Romano, A. AU - Giardino, G. AU - Durandy, A. AU - Nitsch, L. PY - 2012 DA - 2012// TI - De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype JO - Am J Med Genet A VL - 158A UR - https://doi.org/10.1002/ajmg.a.35556 DO - 10.1002/ajmg.a.35556 ID - Cirillo2012 ER - TY - JOUR AU - Puy, L. AU - Beqqali, A. AU - Monshouwer-Kloots, J. AU - Haagsman, H. P. AU - Roelen, B. A. J. AU - Passier, R. PY - 2009 DA - 2009// TI - CAZIP, a novel protein expressed in the developing heart and nervous system JO - Dev Dyn VL - 238 UR - https://doi.org/10.1002/dvdy.22107 DO - 10.1002/dvdy.22107 ID - Puy2009 ER - TY - JOUR AU - Yang, Z. AU - Kaye, D. M. PY - 2009 DA - 2009// TI - Mechanistic insights into the link between a polymorphism of the 3'UTR of the SLC7A1 gene and hypertension JO - Hum Mutat VL - 30 UR - https://doi.org/10.1002/humu.20891 DO - 10.1002/humu.20891 ID - Yang2009 ER - TY - JOUR AU - Wang, Y. PY - 2018 DA - 2018// TI - Jin L: miRNA-145 is associated with spontaneous hypertension by targeting SLC7A1 JO - Exp Ther Med VL - 15 ID - Wang2018 ER - TY - JOUR AU - Hatakeyama, E. AU - Hayashi, K. PY - 2018 DA - 2018// TI - KATNAL1 is a more active and stable isoform of katanin, and is expressed dominantly in neurons JO - Biochem Biophys Res Commun VL - 507 UR - https://doi.org/10.1016/j.bbrc.2018.11.048 DO - 10.1016/j.bbrc.2018.11.048 ID - Hatakeyama2018 ER - TY - JOUR AU - Banks, G. AU - Lassi, G. AU - Hoerder-Suabedissen, A. AU - Tinarelli, F. AU - Simon, M. M. AU - Wilcox, A. PY - 2018 DA - 2018// TI - A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies JO - Mol Psychiatry VL - 23 UR - https://doi.org/10.1038/mp.2017.54 DO - 10.1038/mp.2017.54 ID - Banks2018 ER - TY - JOUR AU - Maroso, M. AU - Balosso, S. AU - Ravizza, T. AU - Liu, J. AU - Aronica, E. AU - Iyer, A. M. PY - 2010 DA - 2010// TI - Toll-like receptor 4 and high-mobility group box-1 are involved in ictogenesis and can be targeted to reduce seizures JO - Nat Med VL - 16 UR - https://doi.org/10.1038/nm.2127 DO - 10.1038/nm.2127 ID - Maroso2010 ER - TY - JOUR AU - Shi, Y. AU - Zhang, L. AU - Teng, J. AU - Miao, W. PY - 2018 DA - 2018// TI - HMGB1 mediates microglia activation via the TLR4/NF-κB pathway in coriaria lactone induced epilepsy JO - Mol Med Rep VL - 17 ID - Shi2018 ER - TY - JOUR AU - Yang, W. AU - Li, J. AU - Shang, Y. AU - Zhao, L. AU - Wang, M. AU - Shi, J. PY - 2017 DA - 2017// TI - HMGB1-TLR4 Axis plays a regulatory role in the pathogenesis of mesial temporal lobe epilepsy in immature rat model and children via the p38MAPK signaling pathway JO - Neurochem Res VL - 42 UR - https://doi.org/10.1007/s11064-016-2153-0 DO - 10.1007/s11064-016-2153-0 ID - Yang2017 ER - TY - JOUR AU - Bermejo, J. L. AU - Kabisch, M. AU - Dünnebier, T. AU - Schnaidt, S. AU - Melchior, F. AU - Fischer, H. P. PY - 2013 DA - 2013// TI - Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases JO - Int J Cancer VL - 133 UR - https://doi.org/10.1002/ijc.28040 DO - 10.1002/ijc.28040 ID - Bermejo2013 ER - TY - JOUR AU - Schulz, S. AU - Chachami, G. AU - Kozaczkiewicz, L. AU - Winter, U. AU - Stankovic-Valentin, N. AU - Haas, P. PY - 2012 DA - 2012// TI - Ubiquitin-specific protease-like 1 (USPL1) is a SUMO isopeptidase with essential, non-catalytic functions JO - EMBO Rep VL - 13 UR - https://doi.org/10.1038/embor.2012.125 DO - 10.1038/embor.2012.125 ID - Schulz2012 ER - TY - JOUR AU - Evans, J. F. AU - Ferguson, A. D. AU - Mosley, R. T. AU - Hutchinson, J. H. PY - 2008 DA - 2008// TI - What's all the FLAP about?: 5-lipoxygenase-activating protein inhibitors for inflammatory diseases JO - Trends Pharmacol Sci VL - 29 UR - https://doi.org/10.1016/j.tips.2007.11.006 DO - 10.1016/j.tips.2007.11.006 ID - Evans2008 ER - TY - JOUR AU - Al-Shemari, H. AU - Bossé, Y. AU - Hudson, T. J. AU - Cabaluna, M. AU - Duval, M. AU - Lemire, M. PY - 2008 DA - 2008// TI - Influence of leukotriene gene polymorphisms on chronic rhinosinusitis JO - BMC Med Genet VL - 9 UR - https://doi.org/10.1186/1471-2350-9-21 DO - 10.1186/1471-2350-9-21 ID - Al-Shemari2008 ER - TY - JOUR AU - Toyo-Oka, K. AU - Sasaki, S. AU - Yano, Y. AU - Mori, D. AU - Kobayashi, T. AU - Toyoshima, Y. Y. PY - 2005 DA - 2005// TI - Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi339 DO - 10.1093/hmg/ddi339 ID - Toyo-Oka2005 ER -