Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
作者： Mario Mastrangelo , Vincenzo Leuzzi
DOI: 10.1016/J.PEDIATRNEUROL.2011.11.003
关键词:
摘要: Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal early infantile periods. They include Ohtahara syndrome, myoclonic encephalopathy, West Dravet other diseases, e.g., X-linked seizures, spasticity intellectual disability idiopathic epileptic-dyskinetic epilepsy mental retardation limited to females, multifocal epilepsy. We summarize recent updates on genes related syndromes involved pathogenesis of early-onset encephalopathies: Aristaless-related homeobox (ARX), cyclin-dependent kinase-like 5 (CDKL5), syntaxin-binding protein 1 (STXBP1), solute carrier family 25 member 22 (SLC25A22), nonerythrocytic α-spectrin-1 (SPTAN1), phospholipase Cβ1 (PLCβ1), membrane-associated guanylate kinase inverted-2 (MAGI2), polynucleotide 3'-phosphatase (PNKP), sodium channel neuronal type 1α subunit (SCN1A), protocadherin 19 (PCDH19), pyridoxamine 5-prime-phosphate oxidase (PNPO).
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researchgate.net 参考文章(103)
Mitushiro Kato, Norihisa Koyama, Masayasu Ohta, Kiyokuni Miura, Kiyoshi Hayasaka, Frameshift mutations of the ARX gene in familial Ohtahara syndrome Epilepsia. ,vol. 51, pp. 1679- 1684 ,(2010) , 10.1111/J.1528-1167.2010.02559.X
FEDERICO MELANI, DAVIDE MEI, TIZIANA PISANO, SALVATORE SAVASTA, EMILIO FRANZONI, ANNA RITA FERRARI, CARLA MARINI, RENZO GUERRINI, CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology. ,vol. 53, pp. 354- 360 ,(2011) , 10.1111/J.1469-8749.2010.03889.X
Motoko Otsuka, Hirokazu Oguni, Jao-Shwann Liang, Hiroko Ikeda, Katsumi Imai, Kyoko Hirasawa, Kaoru Imai, Emiko Tachikawa, Keiko Shimojima, Makiko Osawa, Toshiyuki Yamamoto, STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia. ,vol. 51, pp. 2449- 2452 ,(2010) , 10.1111/J.1528-1167.2010.02767.X
Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E. Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tetsuzo Tagawa, Shigeru Kimura, Akira Sudo, Sahoko Miyama, Yuichi Takami, Toshihide Watanabe, Akira Nishimura, Kiyomi Nishiyama, Noriko Miyake, Takahito Wada, Hitoshi Osaka, Naomi Kondo, Kiyoshi Hayasaka, Naomichi Matsumoto, STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern Epilepsia. ,vol. 51, pp. 2397- 2405 ,(2010) , 10.1111/J.1528-1167.2010.02728.X
Simon Edvardson, Anna-Maria Baumann, Martina Mühlenhoff, Oliver Stephan, Andreas W. Kuss, Avraham Shaag, Liqun He, Shamir Zenvirt, Raimo Tanzi, Rita Gerardy-Schahn, Orly Elpeleg, West syndrome caused byST3Gal-IIIdeficiency Epilepsia. ,vol. 54, pp. e24- e27 ,(2013) , 10.1111/EPI.12050
Andrew Escayg, Alan L. Goldin, Sodium channel SCN1A and epilepsy: Mutations and mechanisms Epilepsia. ,vol. 51, pp. 1650- 1658 ,(2010) , 10.1111/J.1528-1167.2010.02640.X
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han, Erin L Heinzen, Yuki Hitomi, Katherine B Howell, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Yi-Fan Lu, Maura RZ Madou, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J O'Brien, Ruth Ottman, Slavé Petrovski, Annapurna Poduri, Elizabeth K Ruzzo, Ingrid E Scheffer, Elliott H Sherr, Christopher J Yuskaitis, Epilepsy Phenome, Genome Project, Bassel Abou-Khalil, Brian K Alldredge, Jocelyn F Bautista, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Simon Glynn, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Shannon M McGuire, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Renée A Shellhaas, Jerry J Shih, Rani Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Epi4K Consortium, De novo mutations in epileptic encephalopathies Nature. ,vol. 501, pp. 217- 221 ,(2013) , 10.1038/NATURE12439
MICHAEL ABSOUD, JEREMY R PARR, DOROTHY HALLIDAY, PIETER PRETORIUS, ZENOBIA ZAIWALLA, SANDEEP JAYAWANT, A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder. Developmental Medicine & Child Neurology. ,vol. 52, pp. 305- 307 ,(2010) , 10.1111/J.1469-8749.2009.03470.X
Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S Møller, Deepak Gill, Danielle M Andrade, Jeremy L Freeman, Lynette G Sadleir, Jay Shendure, Samuel F Berkovic, Ingrid E Scheffer, Heather C Mefford, Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 Nature Genetics. ,vol. 45, pp. 825- 830 ,(2013) , 10.1038/NG.2646
O McKenzie, I Ponte, M Mangelsdorf, M Finnis, G Colasante, C Shoubridge, S Stifani, J Gécz, V Broccoli, None, Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience. ,vol. 146, pp. 236- 247 ,(2007) , 10.1016/J.NEUROSCIENCE.2007.01.038