New technologies in molecular genetics: the impact on epilepsy research

被引：3

作者：

Helbig, Ingo ^{[1
]}

机构：

[1] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

来源：

GENETICS OF EPILEPSY | 2014年 / 213卷

关键词：

epilepsy; seizures; genomics; exome; genome sequencing; SCN1A; 15q13.3; microdeletion; copy number variation; DE-NOVO MUTATIONS; IDIOPATHIC GENERALIZED EPILEPSY; MIGRATING PARTIAL SEIZURES; GENOME-WIDE ASSOCIATION; INTELLECTUAL DISABILITY; FOCAL EPILEPSY; COPY NUMBER; 15Q13.3; MICRODELETIONS; 16P13.11; PREDISPOSE; INCREASE RISK;

D O I：

10.1016/B978-0-444-63326-2.00013-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Technical advances in the last decade have finally enabled researchers to identify epilepsy-associated genetic variants by querying virtually the entire genome. In the first decade of the twenty-first century, this technical revolution began with the advent of array comparative genomic hybridization and single nucleotide polymorphism arrays. These technologies made it possible for the first time to screen for common genetic variants and rare small deletions and duplications, referred to as microdeletions and microduplications. More recently, the repertoire of technologies has expanded to exome-wide and genome-wide sequencing approaches. These technologies led to a virtual explosion of gene identifications both in familial cases and in rare severe epilepsies, referred to as epileptic encephalopathies. This chapter aims to provide an overview of the achievements of these new technologies and the challenges that the field is currently facing.

引用

页码：253 / 278

页数：26

共 69 条

[1] De novo mutations in epileptic encephalopathies [J].

Allen, Andrew S. ;

Berkovic, Samuel F. ;

Cossette, Patrick ;

Delanty, Norman ;

Dlugos, Dennis ;

Eichler, Evan E. ;

Epstein, Michael P. ;

Glauser, Tracy ;

Goldstein, David B. ;

Han, Yujun ;

Heinzen, Erin L. ;

Hitomi, Yuki ;

Howell, Katherine B. ;

Johnson, Michael R. ;

Kuzniecky, Ruben ;

Lowenstein, Daniel H. ;

Lu, Yi-Fan ;

Madou, Maura R. Z. ;

Marson, Anthony G. ;

Mefford, Heather C. ;

Nieh, Sahar Esmaeeli ;

O'Brien, Terence J. ;

Ottman, Ruth ;

Petrovski, Slave ;

Poduri, Annapurna ;

Ruzzo, Elizabeth K. ;

Scheffer, Ingrid E. ;

Sherr, Elliott H. ;

Yuskaitis, Christopher J. ;

Abou-Khalil, Bassel ;

Alldredge, Brian K. ;

Bautista, Jocelyn F. ;

Berkovic, Samuel F. ;

Boro, Alex ;

Cascino, Gregory D. ;

Consalvo, Damian ;

Crumrine, Patricia ;

Devinsky, Orrin ;

Dlugos, Dennis ;

Epstein, Michael P. ;

Fiol, Miguel ;

Fountain, Nathan B. ;

French, Jacqueline ;

Friedman, Daniel ;

Geller, Eric B. ;

Glauser, Tracy ;

Glynn, Simon ;

Haut, Sheryl R. ;

Hayward, Jean ;

Helmers, Sandra L. .

NATURE, 2013, 501 (7466) :217-+

[2] A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1 [J].

Bar-Peled, Liron ;

Chantranupong, Lynne ;

Cherniack, Andrew D. ;

Chen, Walter W. ;

Ottina, Kathleen A. ;

Grabiner, Brian C. ;

Spear, Eric D. ;

Carter, Scott L. ;

Meyerson, Matthew ;

Sabatini, David M. .

SCIENCE, 2013, 340 (6136) :1100-1106

[3] De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy [J].

Barcia, Giulia ;

Fleming, Matthew R. ;

Deligniere, Aline ;

Gazula, Valeswara-Rao ;

Brown, Maile R. ;

Langouet, Maeva ;

Chen, Haijun ;

Kronengold, Jack ;

Abhyankar, Avinash ;

Cilio, Roberta ;

Nitschke, Patrick ;

Kaminska, Anna ;

Boddaert, Nathalie ;

Casanova, Jean-Laurent ;

Desguerre, Isabelle ;

Munnich, Arnold ;

Dulac, Olivier ;

Kaczmarek, Leonard K. ;

Colleaux, Laurence ;

Nabbout, Rima .

NATURE GENETICS, 2012, 44 (11) :1255-1259

[4] Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene [J].

Caliebe, Almuth ;

Kroes, Hester Y. ;

van der Smagt, Jasper J. ;

Martin-Subero, Jose I. ;

Toennies, Holger ;

van 't Slot, Ruben ;

Nievelstein, Rutger A. J. ;

Muhle, Hiltrud ;

Stephani, Ulrich ;

Alfke, Karsten ;

Stefanova, Irina ;

Hellenbroich, Yorck ;

Gillessen-Kaesbach, Gabriele ;

Hochstenbach, Ron ;

Siebert, Reiner ;

Poot, Martin .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2010, 53 (04) :179-185

[5] Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy [J].

Campbell, Ian M. ;

Rao, Mitchell ;

Arredondo, Sean D. ;

Lalani, Seema R. ;

Xia, Zhilian ;

Kang, Sung-Hae L. ;

Bi, Weimin ;

Breman, Amy M. ;

Smith, Janice L. ;

Bacino, Carlos A. ;

Beaudet, Arthur L. ;

Patel, Ankita ;

Cheung, Sau Wai ;

Lupski, James R. ;

Stankiewicz, Pawel ;

Ramocki, Melissa B. ;

Shaw, Chad A. .

PLOS GENETICS, 2013, 9 (09)

[6] The genetic basis of DOORS syndrome: an exome-sequencing study [J].

Campeau, Philippe M. ;

Kasperaviciute, Dalia ;

Lu, James T. ;

Burrage, Lindsay C. ;

Kim, Choel ;

Hori, Mutsuki ;

Powell, Berkley R. ;

Stewart, Fiona ;

Felix, Temis Maria ;

van den Ende, Jenneke ;

Wisniewska, Marzena ;

Kayserili, Huelya ;

Rump, Patrick ;

Nampoothiri, Sheela ;

Aftimos, Salim ;

Mey, Antje ;

Nair, Lal D. V. ;

Begleiter, Michael L. ;

De Bie, Isabelle ;

Meenakshi, Girish ;

Murray, Mitzi L. ;

Repetto, Gabriela M. ;

Golabi, Mahin ;

Blair, Edward ;

Male, Alison ;

Giuliano, Fabienne ;

Kariminejad, Ariana ;

Newman, William G. ;

Bhaskar, Sanjeev S. ;

Dickerson, Jonathan E. ;

Kerr, Bronwyn ;

Banka, Siddharth ;

Giltay, Jacques C. ;

Wieczorek, Dagmar ;

Tostevin, Anna ;

Wiszniewska, Joanna ;

Cheung, Sau Wai ;

Hennekam, Raoul C. ;

Gibbs, Richard A. ;

Lee, Brendan H. ;

Sisodiya, Sanjay M. .

LANCET NEUROLOGY, 2014, 13 (01) :44-58

[7] Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 [J].

Carvill, Gemma L. ;

Heavin, Sinead B. ;

Yendle, Simone C. ;

McMahon, Jacinta M. ;

O'Roak, Brian J. ;

Cook, Joseph ;

Khan, Adiba ;

Dorschner, Michael O. ;

Weaver, Molly ;

Calvert, Sophie ;

Malone, Stephen ;

Wallace, Geoffrey ;

Stanley, Thorsten ;

Bye, Ann M. E. ;

Bleasel, Andrew ;

Howell, Katherine B. ;

Kivity, Sara ;

Mackay, Mark T. ;

Rodriguez-Casero, Victoria ;

Webster, Richard ;

Korczyn, Amos ;

Afawi, Zaid ;

Zelnick, Nathanel ;

Lerman-Sagie, Tally ;

Lev, Dorit ;

Moller, Rikke S. ;

Gill, Deepak ;

Andrade, Danielle M. ;

Freeman, Jeremy L. ;

Sadleir, Lynette G. ;

Shendure, Jay ;

Berkovic, Samuel F. ;

Scheffer, Ingrid E. ;

Mefford, Heather C. .

NATURE GENETICS, 2013, 45 (07) :825-U158

[8] Carbamazepine-Induced Toxic Effects and HLA-B*1502 Screening in Taiwan [J].

Chen, Pei ;

Lin, Juei-Jueng ;

Lu, Chin-Song ;

Ong, Cheung-Ter ;

Hsieh, Peiyuan F. ;

Yang, Chih-Chao ;

Tai, Chih-Ta ;

Wu, Shey-Lin ;

Lu, Cheng-Hsien ;

Hsu, Yung-Chu ;

Yu, Hsiang-Yu ;

Ro, Long-Sun ;

Lu, Chung-Ta ;

Chu, Chun-Che ;

Tsai, Jing-Jane ;

Su, Yu-Hsiang ;

Lan, Sheng-Hsing ;

Sung, Sheng-Feng ;

Lin, Shu-Yi ;

Chuang, Hui-Ping ;

Huang, Li-Chen ;

Chen, Ying-Ju ;

Tsai, Pei-Joung ;

Liao, Hung-Ting ;

Lin, Yu-Hsuan ;

Chen, Chien-Hsiun ;

Chung, Wen-Hung ;

Hung, Shuen-Iu ;

Wu, Jer-Yuarn ;

Chang, Chi-Feng ;

Chen, Luke ;

Chen, Yuan-Tsong ;

Shen, Chen-Yang .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (12) :1126-1133

[9] Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia [J].

Chen, Wan-Jin ;

Lin, Yu ;

Xiong, Zhi-Qi ;

Wei, Wei ;

Ni, Wang ;

Tan, Guo-He ;

Guo, Shun-Ling ;

He, Jin ;

Chen, Ya-Fang ;

Zhang, Qi-Jie ;

Li, Hong-Fu ;

Lin, Yi ;

Murong, Shen-Xing ;

Xu, Jianfeng ;

Wang, Ning ;

Wu, Zhi-Ying .

NATURE GENETICS, 2011, 43 (12) :1252-U116

[10] Presence of Epilepsy-Associated Variants in Large Exome Databases [J].

Cherepanova, Natalya S. ;

Leslie, Elizabeth ;

Ferguson, Polly J. ;

Bamshad, Michael J. ;

Bassuk, Alexander G. .

JOURNAL OF NEUROGENETICS, 2013, 27 (1-2) :1-4

← 1 2 3 4 5 6 7 →