Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.
epilepsy
exome sequencing
genomic medicine
personalized medicine
precision medicine
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
revised:
14
06
2022
received:
31
01
2022
accepted:
14
06
2022
pubmed:
19
6
2022
medline:
14
10
2022
entrez:
18
6
2022
Statut:
ppublish
Résumé
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes. Intellectual and technological leaps in diagnosis over the past 10 years have not yet translated to routine changes in clinical practice. However, the epilepsy community is poised to make impressive gains in precision therapy, with continued innovation in gene discovery, diagnostic ability, and bioinformatics; increased access to genetic testing and counseling; fuller understanding of natural histories; agility and rigor in preclinical research, including strategic use of emerging model systems; and engagement of an evolving group of stakeholders (including patient advocates, governmental resources, and clinicians and scientists in academia and industry). In each of these areas, we highlight notable examples of recent progress, new or persistent challenges, and future directions. The future of precision medicine for genetic epilepsy looks bright if key opportunities on the horizon can be pursued with strategic and coordinated effort.
Identifiants
pubmed: 35716052
doi: 10.1111/epi.17332
pmc: PMC9561034
mid: NIHMS1829876
doi:
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2461-2475Subventions
Organisme : NINDS NIH HHS
ID : U54 NS108874
Pays : United States
Organisme : NINDS NIH HHS
ID : K02 NS112600
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001878
Pays : United States
Organisme : NIDA NIH HHS
ID : HHSN271201600048C
Pays : United States
Organisme : NINDS NIH HHS
ID : K08 NS119800
Pays : United States
Organisme : NINDS NIH HHS
ID : K12 NS098482
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD086984
Pays : United States
Organisme : NINDS NIH HHS
ID : U24 NS120854
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS114312
Pays : United States
Organisme : NINDS NIH HHS
ID : K08 NS097633
Pays : United States
Organisme : NINDS NIH HHS
ID : R37 NS076752
Pays : United States
Informations de copyright
© 2022 International League Against Epilepsy.
Références
Epilepsia. 2021 Jan;62(1):198-216
pubmed: 33368200
Nature. 2013 Sep 12;501(7466):217-21
pubmed: 23934111
Am J Hum Genet. 2019 Aug 1;105(2):267-282
pubmed: 31327507
J Clin Invest. 2021 Dec 1;131(23):
pubmed: 34850743
Exp Neurol. 2018 Jan;299(Pt A):157-171
pubmed: 28987462
N Engl J Med. 2018 Feb 15;378(7):625-635
pubmed: 29443664
JAMA. 2020 Jun 23;323(24):2503-2511
pubmed: 32573669
Brain. 2017 Sep 1;140(9):2337-2354
pubmed: 29050392
Nature. 2016 Jan 28;529(7587):490-5
pubmed: 26735016
Eur J Neurol. 2021 Jun;28(6):1901-1909
pubmed: 33730413
Brain. 2017 May 1;140(5):1316-1336
pubmed: 28379373
Nat Neurosci. 2006 Sep;9(9):1142-9
pubmed: 16921370
Front Genet. 2018 Feb 07;9:20
pubmed: 29467791
Brain. 2019 Nov 1;142(11):3473-3481
pubmed: 31608925
Annu Rev Genomics Hum Genet. 2020 Aug 31;21:205-230
pubmed: 32339036
Am J Med Genet A. 2021 Jan;185(1):68-72
pubmed: 33051968
Annu Rev Genomics Hum Genet. 2020 Aug 31;21:305-326
pubmed: 32339034
Eur J Med Genet. 2020 Jan;63(1):103628
pubmed: 30771507
Dev Dyn. 2020 Jan;249(1):56-75
pubmed: 31241228
Brain. 2017 Feb;140(2):306-318
pubmed: 28007990
Ann Neurol. 2019 Dec;86(6):899-912
pubmed: 31600826
Pediatr Neurol. 2017 Aug;73:28-35
pubmed: 28583702
Sci Transl Med. 2021 Sep;13(609):eaaz4957
pubmed: 34516822
Neurol Genet. 2019 Apr 01;5(2):e323
pubmed: 31119194
Mol Cell Neurosci. 2020 Oct;108:103535
pubmed: 32758699
JAMA Neurol. 2018 Mar 1;75(3):279-286
pubmed: 29279892
Lancet. 2011 Aug 13;378(9791):595-605
pubmed: 21784508
N Engl J Med. 2019 Oct 24;381(17):1678-1680
pubmed: 31597016
Epilepsia. 2015 May;56(5):685-91
pubmed: 25880994
N Engl J Med. 2019 Oct 24;381(17):1644-1652
pubmed: 31597037
Epilepsy Curr. 2021 Jun 30;21(5):389-393
pubmed: 34924844
Nucleic Acid Ther. 2022 Apr;32(2):111-117
pubmed: 34797685
Sci Transl Med. 2020 Aug 26;12(558):
pubmed: 32848094
Brain. 2020 Jul 1;143(7):2106-2118
pubmed: 32568404
Curr Neurol Neurosci Rep. 2015 Oct;15(10):70
pubmed: 26319171
Ann Neurol. 2016 Mar;79(3):502-3
pubmed: 26748457
Genet Med. 2019 Nov;21(11):2496-2503
pubmed: 31056551
Epilepsy Res. 2020 Jan;159:106261
pubmed: 31887642
Brain. 2017 Mar 1;140(3):669-683
pubmed: 28073790
Nat Med. 2018 Oct;24(10):1568-1578
pubmed: 30127391
Pediatr Neurol. 2017 Mar;68:18-34.e3
pubmed: 28284397
Hum Brain Mapp. 2020 May 29;:
pubmed: 32468614
Sci Rep. 2018 Jul 10;8(1):10416
pubmed: 29991696
Epilepsia. 2019 May;60(5):797-806
pubmed: 30951195
Neurogenetics. 2018 May;19(2):105-110
pubmed: 29589152
Science. 2019 Dec 20;366(6472):1486-1492
pubmed: 31857479
Nat Genet. 2018 Apr;50(4):581-590
pubmed: 29507423
J Genet Couns. 2020 Aug;29(4):678-688
pubmed: 32275337
Lancet Neurol. 2015 Dec;14(12):1219-28
pubmed: 26416172
Epilepsia. 2021 Mar;62 Suppl 2:S90-S105
pubmed: 32776321
Dev Med Child Neurol. 2021 Jul;63(7):802-807
pubmed: 33543479
Brain. 2022 Sep 14;145(9):2991-3009
pubmed: 34431999
Neurology. 2021 Oct 26;97(17):817-831
pubmed: 34493617
Nat Commun. 2018 Dec 10;9(1):5269
pubmed: 30531953
Epilepsia. 2017 Apr;58(4):512-521
pubmed: 28276062
JAMA Neurol. 2020 Mar 1;77(3):300-308
pubmed: 31790543
N Engl J Med. 2018 Nov 29;379(22):2131-2139
pubmed: 30304647
Neurology. 2021 Mar 16;96(11):529-540
pubmed: 33504638
Pediatr Neurol. 2021 Dec;125:53-57
pubmed: 34628144
N Engl J Med. 2018 Jul 05;379(1):22-31
pubmed: 29972757
Epilepsy Behav. 2020 Apr;105:106989
pubmed: 32169824
Neurosci Lett. 2018 Feb 22;667:27-39
pubmed: 28082152
Genome Biol. 2016 Dec 13;17(1):245
pubmed: 27955713
Pediatr Neurol. 2019 Aug;97:38-42
pubmed: 31147226
JAMA Neurol. 2019 Sep 01;76(9):1109-1116
pubmed: 31380988
Brain. 2020 Oct 1;143(10):3025-3040
pubmed: 32968789
Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198
pubmed: 24839611
Epilepsia. 2014 Feb;55(2):203-13
pubmed: 24299204
Ann Neurol. 2014 Sep;76(3):457-61
pubmed: 25042079
Cell Stem Cell. 2017 Apr 6;20(4):435-449.e4
pubmed: 28111201
EMBO Mol Med. 2019 Oct;11(10):e9963
pubmed: 31486590
Lancet Neurol. 2020 Jan;19(1):93-100
pubmed: 31494011
Nat Neurosci. 2015 Mar;18(3):360-6
pubmed: 25710838
Lancet Neurol. 2017 Feb;16(2):135-143
pubmed: 28102150
Ann Neurol. 2013 Jul;74(1):128-39
pubmed: 23821540
Nat Genet. 2008 Jun;40(6):782-8
pubmed: 18469812
Front Neural Circuits. 2014 Jul 24;8:87
pubmed: 25104926
Epilepsia. 2018 Apr;59(4):802-813
pubmed: 29574705
Mol Ther. 2020 Jan 8;28(1):235-253
pubmed: 31607539
Epilepsia. 2019 Dec;60 Suppl 3:S59-S67
pubmed: 31904126
Epilepsia. 2018 Oct;59(10):1881-1888
pubmed: 30146701
Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):313-331
pubmed: 27862920
Epilepsia Open. 2019 Jul 01;4(3):397-408
pubmed: 31440721
J Neurochem. 2021 Apr;157(2):229-262
pubmed: 32880951
Neurology. 2016 Mar 8;86(10):954-62
pubmed: 26865513
Epilepsia. 2021 Jun;62(6):1293-1305
pubmed: 33949685
Epilepsia. 2021 Jul;62(7):1665-1676
pubmed: 34002394
Neurology. 2020 Jun 9;94(23):e2436-e2440
pubmed: 32300063
Epilepsia. 2022 Feb;63(2):375-387
pubmed: 34893972
Epilepsia. 2008 Nov;49 Suppl 8:46-9
pubmed: 19049586
Ann Neurol. 2020 Mar;87(3):339-346
pubmed: 31943325
N Engl J Med. 2022 Feb 17;386(7):700-702
pubmed: 35020984
Epilepsia. 2018 May;59(5):1062-1071
pubmed: 29655203
Epilepsia. 2019 Dec;60 Suppl 3:S39-S48
pubmed: 31904119
Am J Hum Genet. 2018 Dec 6;103(6):1022-1029
pubmed: 30526861
Epilepsy Curr. 2021 Jun 30;21(5):385-388
pubmed: 34924843
Mol Psychiatry. 2018 Apr;23(4):1051-1065
pubmed: 28439102