Epilepsy genetics: clinical impacts and biological insights

被引：105

作者：

Ellis, Colin A. ^{[1
,2
]}

Petrovski, Slave ^{[2
,3
]}

Berkovic, Samuel F. ^{[2
]}

机构：

[1] Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA

[2] Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Heidelberg, Vic, Australia

[3] AstraZeneca, Ctr Genom Res Discovery Sci, Res & Dev Biopharmacet, Cambridge, England

来源：

LANCET NEUROLOGY | 2020年 / 19卷 / 01期

关键词：

DE-NOVO MUTATIONS; COMMON EPILEPSIES; SEQUENCE VARIANTS; GENES; ENCEPHALOPATHIES; DISORDERS; SEIZURES; THERAPY; MICRODELETIONS; INDIVIDUALS;

D O I：

10.1016/S1474-4422(19)30269-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of genetic mechanisms and neurobiological pathways that contribute to these disorders. The new genomic era can present a challenge to clinicians, who now find themselves asked to interpret and apply genetic data to their daily management of patients with epilepsy. Navigation of this new era will require genetic literacy and familiarity with research advances in epilepsy genetics. Genetic epilepsy diagnoses now directly affect clinical care, and their importance will only increase as new targeted treatments continue to emerge. At the same time, new genetic insights challenge us to move from a deterministic view of genetic changes to a more nuanced appreciation of genetic risk within complex neurobiological systems that give rise to epilepsy.

引用

页码：93 / 100

页数：8

共 72 条

[1] Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies [J].

Abou-Khalil, Bassel ;

Auce, Pauls ;

Avbersek, Andreja ;

Bahlo, Melanie ;

Balding, David J. ;

Bast, Thomas ;

Baum, Larry ;

Becker, Albert J. ;

Becker, Felicitas ;

Berghuis, Bianca ;

Berkovic, Samuel F. ;

Boysen, Katja E. ;

Bradfield, Jonathan P. ;

Brody, Lawrence C. ;

Buono, Russell J. ;

Campbell, Ellen ;

Cascino, Gregory D. ;

Catarino, Claudia B. ;

Cavalleri, Gianpiero L. ;

Cherny, Stacey S. ;

Chinthapalli, Krishna ;

Coffey, Alison J. ;

Compston, Alastair ;

Coppola, Antonietta ;

Cossette, Patrick ;

Craig, John J. ;

de Haan, Gerrit-Jan ;

De Jonghe, Peter ;

de Kovel, Carolien G. F. ;

Delanty, Norman ;

Depondt, Chantal ;

Devinsky, Orrin ;

Dlugos, Dennis J. ;

Doherty, Colin P. ;

Elger, Christian E. ;

Eriksson, Johan G. ;

Ferraro, Thomas N. ;

Feucht, Martha ;

Francis, Ben ;

Franke, Andre ;

French, Jacqueline A. ;

Freytag, Saskia ;

Gaus, Verena ;

Geller, Eric B. ;

Gieger, Christian ;

Glauser, Tracy ;

Glynn, Simon ;

Goldstein, David B. ;

Gui, Hongsheng ;

Guo, Youling .

NATURE COMMUNICATIONS, 2018, 9

[2] Ultra-rare genetic variation in common epilepsies: a case-control sequencing study [J].

Allen, Andrew S. ;

Bellows, Susannah T. ;

Berkovic, Samuel F. ;

Bridgers, Joshua ;

Burgess, Rosemary ;

Cavalleri, Gianpiero ;

Chung, Seo-Kyung ;

Cossette, Patrick ;

Delanty, Norman ;

Dlugos, Dennis ;

Epstein, Michael P. ;

Freyer, Catharine ;

Goldstein, David B. ;

Heinzen, Erin L. ;

Hildebrand, Michael S. ;

Johnson, Michael R. ;

Kuzniecky, Ruben ;

Lowenstein, Daniel H. ;

Marson, Anthony G. ;

Mayeux, Richard ;

Mebane, Caroline ;

Mefford, Heather C. ;

O'Brien, Terence J. ;

Ottman, Ruth ;

Petrou, Steven ;

Petrovski, Slave ;

Pickrell, William O. ;

Poduri, Annapurna ;

Radtke, Rodney A. ;

Rees, Mark I. ;

Regan, Brigid M. ;

Ren, Zhong ;

Scheffer, Ingrid E. ;

Sills, Graeme J. ;

Thomas, Rhys H. ;

Wang, Quanli ;

Abou-Khalil, Bassel ;

Alldredge, Brian K. ;

Amrom, Dina ;

Andermann, Eva ;

Andermann, Frederick ;

Bautista, Jocelyn F. ;

Berkovic, Samuel F. ;

Bluvstein, Judith ;

Boro, Alex ;

Cascino, Gregory D. ;

Consalvo, Damian ;

Crumrine, Patricia ;

Devinsky, Orrin ;

Dlugos, Dennis .

LANCET NEUROLOGY, 2017, 16 (02) :135-143

[3] 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-+

[4] THE RISKS OF SEIZURE DISORDERS AMONG RELATIVES OF PATIENTS WITH CHILDHOOD ONSET EPILEPSY [J].

ANNEGERS, JF ;

HAUSER, WA ;

ANDERSON, VE ;

KURLAND, LT .

NEUROLOGY, 1982, 32 (02) :174-179

[5] Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies [J].

Anney, Richard J. L. ;

Avbersek, Andreja ;

Balding, David ;

Baum, Larry ;

Becker, Felicitas ;

Berkovic, Samuel F. ;

Bradfield, Jonathan P. ;

Brody, Lawrence C. ;

Buono, Russell J. ;

Catarino, Claudia B. ;

Cavalleri, Gianpiero L. ;

Cherny, Stacey S. ;

Chinthapalli, Krishna ;

Coffey, Alison J. ;

Compston, Alastair ;

Cossette, Patrick ;

de Haan, Gerrit-Jan ;

De Jonghe, Peter ;

de Kovel, Carolien G. F. ;

Delanty, Norman ;

Depondt, Chantal ;

Dlugos, Dennis J. ;

Doherty, Colin P. ;

Elger, Christian E. ;

Ferraro, Thomas N. ;

Feucht, Martha ;

Franke, Andre ;

French, Jacqueline ;

Gaus, Verena ;

Goldstein, David B. ;

Gui, Hongsheng ;

Guo, Youling ;

Hakonarson, Hakon ;

Hallmann, Kerstin ;

Heinzen, Erin L. ;

Helbig, Ingo ;

Hjalgrim, Helle ;

Jackson, Margaret ;

Jamnadas-Khoda, Jennifer ;

Janz, Dieter ;

Johnson, Michael R. ;

Kaelviaeinen, Reetta ;

Kantanen, Anne-Mari ;

Kasperaviciute, Dalia ;

Trenite, Dorothee Kasteleijn-Nolst ;

Koeleman, Bobby P. C. ;

Kunz, Wolfram S. ;

Kwan, Patrick ;

Lau, Yu Lung ;

Lehesjoki, Anna-Elina .

LANCET NEUROLOGY, 2014, 13 (09) :893-903

[6] De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies [J].

Appenzeller, Silke ;

Balling, Rudi ;

Barisic, Nina ;

Baulac, Stephanie ;

Caglayan, Hande ;

Craiu, Dana ;

De Jonghe, Peter ;

Depienne, Christel ;

Dimova, Petia ;

Djemie, Tania ;

Gormley, Padhraig ;

Guerrini, Renzo ;

Helbig, Ingo ;

Hjalgrim, Helle ;

Hoffman-Zacharska, Dorota ;

Jaehn, Johanna ;

Klein, Karl Martin ;

Koeleman, Bobby ;

Komarek, Vladimir ;

Krause, Roland ;

Kuhlenbaeumer, Gregor ;

Leguern, Eric ;

Lehesjoki, Anna-Elina ;

Lemke, Johannes R. ;

Lerche, Holger ;

Linnankivi, Tarja ;

Marini, Carla ;

May, Patrick ;

Moller, Rikke S. ;

Muhle, Hiltrud ;

Pal, Deb ;

Palotie, Aarno ;

Pendziwiat, Manuela ;

Robbiano, Angela ;

Roelens, Filip ;

Rosenow, Felix ;

Selmer, Kaja ;

Serratosa, Jose M. ;

Sisodiya, Sanjay ;

Stephani, Ulrich ;

Sterbova, Katalin ;

Striano, Pasquale ;

Suls, Arvid ;

Talvik, Tiina ;

von Spiczak, Sarah ;

Weber, Yvonne ;

Weckhuysen, Sarah ;

Zara, Federico ;

Abou-Khalil, Bassel ;

Alldredge, Brian K. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (04) :360-370

[7]

Bahlo Melanie, 2018, F1000Res, V7, DOI 10.12688/f1000research.13980.1

[8] Targeted Treatment of Migrating Partial Seizures of Infancy with Quinidine [J].

Bearden, David ;

Strong, Alanna ;

Ehnot, Jessica ;

DiGiovine, Marissa ;

Dlugos, Dennis ;

Goldberg, Ethan M. .

ANNALS OF NEUROLOGY, 2014, 76 (03) :457-461

[9] ExACtly zero or once A clinically helpful guide to assessing genetic variants in mild epilepsies [J].

Bennett, Caitlin A. ;

Petrovski, Slave ;

Oliver, Karen L. ;

Berkovic, Samuel F. .

NEUROLOGY-GENETICS, 2017, 3 (04)

[10]

Berkovic F, 2015, LANCET NEUROL, V14, P1219, DOI [10.1016/S1474-4422(15)00199-4, 10.1016/S1474-4422(16)00012-0]

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