Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)

被引：4

作者：

Viswanathan, Sindhu ^{[1
,2
]}

Oliver, Karen L. ^{[1
,3
,4
]}

Regan, Brigid M. ^{[1
]}

Schneider, Amy L. ^{[1
]}

Myers, Candace T. ^{[5
]}

Mehaffey, Michele G. ^{[5
,6
]}

LaCroix, Amy J. ^{[6
]}

Antony, Jayne ^{[7
]}

Webster, Richard ^{[7
]}

Cardamone, Michael ^{[8
,9
]}

Subramanian, Gopinath M. ^{[10
]}

Chiu, Annie T. G. ^{[1
]}

Roza, Eugenia ^{[11
,12
]}

Teleanu, Raluca I. ^{[11
,12
]}

Malone, Stephen ^{[13
,14
]}

Leventer, Richard J. ^{[15
,16
]}

Gill, Deepak ^{[7
,17
]}

Berkovic, Samuel F. ^{[1
]}

Hildebrand, Michael S. ^{[1
,16
]}

Goad, Beatrice S. ^{[15
,16
]}

Howell, Katherine B. ^{[15
,16
]}

Symonds, Joseph D. ^{[18
,19
]}

Brunklaus, Andreas ^{[18
,19
]}

Sadleir, Lynette G. ^{[20
]}

Zuberi, Sameer M. ^{[18
,19
]}

Mefford, Heather C. ^{[6
,21
]}

Scheffer, Ingrid E. ^{[1
,15
,16
,22
]}

机构：

[1] Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Melbourne, Australia

[2] Hosp Pulau Pinang, Dept Paediat, George Town, Malaysia

[3] Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Australia

[4] Univ Melbourne, Dept Med Biol, Melbourne, Australia

[5] Univ Washington, Dept Lab Med & Pathol, Seattle, WA USA

[6] Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA USA

[7] Univ Sydney, Childrens Hosp Westmead, Fac Med & Hlth, TY Nelson Dept Neurol & Neurosurg, Sydney, Australia

[8] Sydney Childrens Hosp, Dept Paediat Neurol, Randwick, Australia

[9] UNSW Sydney, Sch Clin Med, Sydney, Australia

[10] John Hunter Childrens Hosp, Dept Paediat Neurol, New Lambton Hts, Australia

[11] Carol Davila Univ Med & Pharm, Fac Med, Clin Neurosci Dept, Bucharest, Romania

[12] Dr Victor Gomoiu Childrens Hosp, Pediat Neurol Dept, Bucharest, Romania

[13] Univ Queensland, Ctr Adv Imaging, St Lucia, Australia

[14] Queensland Childrens Hosp, Neurosci Dept, South Brisbane, Australia

[15] Univ Melbourne, Royal Childrens Hosp, Dept Neurol, Melbourne, Australia

[16] Murdoch Childrens Res Inst, Neurosci Res Grp, Melbourne, Australia

[17] Kids Neurosci Ctr, Kids Res Inst, Sydney, Australia

[18] Univ Glasgow, Sch Hlth & Wellbeing, Glasgow, Scotland

[19] Royal Hosp Children, Paediat Neurosci Res Grp, Glasgow, Scotland

[20] Univ Otago Wellington, Dept Paediat & Child Hlth, Wellington, New Zealand

[21] St Jude Childrens Res Hosp, Ctr Pediat Neurol Dis Res, Memphis, TN USA

[22] Florey Inst Neurosci & Mental Hlth, Melbourne, Australia

来源：

ANNALS OF NEUROLOGY | 2024年 / 96卷 / 05期

基金：

英国医学研究理事会;

关键词：

GRIN2A MUTATIONS; APHASIA; VARIANTS; SPEECH; PHENOTYPE; FREQUENCY; CHILDREN; GENE;

D O I：

10.1002/ana.27041

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS). Methods: All patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn from our Epilepsy Genetics research program, together with 10 etiologically solved patients referred by collaborators in the Expanded cohort (n = 101). Detailed phenotyping and analysis of molecular genetic results were performed. We compared the phenotypic features of individuals with DEE-SWAS and EE-SWAS. Brain-specific gene co-expression analysis was performed for D/EE-SWAS genes. Results: We identified the etiology in 42/91 (46%) patients in our Core cohort, including 29/44 (66%) with DEE-SWAS and 13/47 (28%) with EE-SWAS. A genetic etiology was identified in 31/91 (34%). D/EE-SWAS genes were highly co-expressed in brain, highlighting the importance of channelopathies and transcriptional regulators. Structural etiologies were found in 12/91 (13%) individuals. We identified 10 novel D/EE-SWAS genes with a range of functions: ATP1A2, CACNA1A, FOXP1, GRIN1, KCNMA1, KCNQ3, PPFIA3, PUF60, SETD1B, and ZBTB18, and 2 novel copy number variants, 17p11.2 duplication and 5q22 deletion. Although developmental regression patterns were similar in both syndromes, DEE-SWAS was associated with a longer duration of epilepsy and poorer intellectual outcome than EE-SWAS. Interpretation: DEE-SWAS and EE-SWAS have highly heterogeneous genetic and structural etiologies. Phenotypic analysis highlights valuable clinical differences between DEE-SWAS and EE-SWAS which inform clinical care and prognostic counseling. Our etiological findings pave the way for the development of precision therapies. ANN NEUROL 2024

引用

页码：932 / 943

页数：12

共 41 条

[21]

MARIEN P, 1993, ACTA NEUROL BELG, V93, P183

[22] Rare copy number variants are an important cause of epileptic encephalopathies [J].

Mefford, Heather C. ;

Yendle, Simone C. ;

Hsu, Cynthia ;

Cook, Joseph ;

Geraghty, Eileen ;

McMahon, Jacinta M. ;

Eeg-Olofsson, Orvar ;

Sadleir, Lynette G. ;

Gill, Deepak ;

Ben-Zeev, Bruria ;

Lerman-Sagie, Tally ;

Mackay, Mark ;

Freeman, Jeremy L. ;

Andermann, Eva ;

Pelakanos, James T. ;

Andrews, Ian ;

Wallace, Geoffrey ;

Eichler, Evan E. ;

Berkovic, Samuel F. ;

Scheffer, Ingrid E. .

ANNALS OF NEUROLOGY, 2011, 70 (06) :974-985

[23] Epilepsy in Rett syndrome-The experience of a National Rett Center [J].

Nissenkorn, Andreea ;

Gak, Eva ;

Vecsler, Manuela ;

Reznik, Haia ;

Menascu, Shay ;

Ben Zeev, Bruria .

EPILEPSIA, 2010, 51 (07) :1252-1258

[24] Genes4Epilepsy: An epilepsy gene resource [J].

Oliver, Karen L. ;

Scheffer, Ingrid E. ;

Bennett, Mark F. ;

Grinton, Bronwyn E. ;

Bahlo, Melanie ;

Berkovic, Samuel F. .

EPILEPSIA, 2023, 64 (05) :1368-1375

[25] In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery [J].

Oliver, Karen L. ;

Lukic, Vesna ;

Freytag, Saskia ;

Scheffer, Ingrid E. ;

Berkovic, Samuel F. ;

Bahlo, Melanie .

NEUROLOGY-GENETICS, 2016, 2 (01)

[26] Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes [J].

Oliver, Karen L. ;

Lukic, Vesna ;

Thorne, Natalie P. ;

Berkovic, Samuel F. ;

Scheffer, Ingrid E. ;

Bahlo, Melanie .

PLOS ONE, 2014, 9 (07)

[27] A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 [J].

Paul, Maimuna S. ;

Michener, Sydney L. ;

Pan, Hongling ;

Chan, Hiuling ;

Pfliger, Jessica M. ;

Rosenfeld, Jill A. ;

Lerma, Vanesa C. ;

Tran, Alyssa ;

Longley, Megan A. ;

Lewis, Richard A. ;

Weisz-Hubshman, Monika ;

Bekheirnia, Mir Reza ;

Bekheirnia, Nasim ;

Massingham, Lauren ;

Zech, Michae ;

Wagner, Matia ;

Engels, Hartmut ;

Cremer, Kirsten ;

Mangold, Elisabeth ;

Peters, Sophia ;

Trautmann, Jessica ;

Mester, Jessica L. ;

Sacoto, Maria J. Guillen ;

Person, Richard ;

Mcdonnell, Pamela P. ;

Cohen, Stacey R. ;

Lusk, Laina ;

Cohen, Ana S. A. ;

Le Pichon, Jean-Baptiste ;

Pastinen, Tomi ;

Zhou, Dihong ;

Engleman, Kendra ;

Racirie, Carolin ;

Faivre, Laurence ;

Moutton, Sebastien ;

Denomme-Pichon, Anne-Sophie ;

Koh, Hyun Yong ;

Poduri, Annapurna ;

Bolton, Jeffrey ;

Knopp, Cordula ;

Suh, Dong Sun Julia ;

Maier, Andrea ;

Toosi, Mehran Beiraghi ;

Karimiani, Ehsan Ghayoor ;

Maroofian, Reza ;

Schaefer, Gerald Bradley ;

Ramakumaran, Vijayalakshmi ;

Vasudevan, Pradeep ;

Prasad, Chitra ;

Osmond, Matthew .

AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (01) :96-118

[28] GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects [J].

Platzer, Konrad ;

Yuan, Hongjie ;

Schuetz, Hannah ;

Winschel, Alexander ;

Chen, Wenjuan ;

Hu, Chun ;

Kusumoto, Hirofumi ;

Heyne, Henrike O. ;

Helbig, Katherine L. ;

Tang, Sha ;

Willing, Marcia C. ;

Tinkle, Brad T. ;

Adams, Darius J. ;

Depienne, Christel ;

Keren, Boris ;

Mignot, Cyril ;

Frengen, Eirik ;

Stromme, Petter ;

Biskup, Saskia ;

Doecker, Dennis ;

Strom, Tim M. ;

Mefford, Heather C. ;

Myers, Candace T. ;

Muir, Alison M. ;

LaCroix, Amy ;

Sadleir, Lynette ;

Scheffer, Ingrid E. ;

Brilstra, Eva ;

van Haelst, Mieke M. ;

van der Smagt, Jasper J. ;

Bok, Levinus A. ;

Moller, Rikke S. ;

Jensen, Uffe B. ;

Millichap, John J. ;

Berg, Anne T. ;

Goldberg, Ethan M. ;

De Bie, Isabelle ;

Fox, Stephanie ;

Major, Philippe ;

Jones, Julie R. ;

Zackai, Elaine H. ;

Abou Jamra, Rami ;

Rolfs, Arndt ;

Leventer, Richard J. ;

Lawson, John A. ;

Roscioli, Tony ;

Jansen, Floor E. ;

Ranza, Emmanuelle ;

Korff, Christian M. ;

Lehesjoki, Anna-Elina .

JOURNAL OF MEDICAL GENETICS, 2017, 54 (07) :460-470

[29] Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype [J].

Potocki, Lorraine ;

Bi, Weimin ;

Treadwell-Deering, Diane ;

Carvalho, Claudia M. B. ;

Eifert, Anna ;

Friedman, Ellen M. ;

Glaze, Daniel ;

Krull, Kevin ;

Lee, Jennifer A. ;

Lewis, Richard Alan ;

Mendoza-Londono, Roberto ;

Robbins-Furman, Patricia ;

Shaw, Chad ;

Shi, Xin ;

Weissenberger, George ;

Withers, Marjorie ;

Yatsenko, Svetlana A. ;

Zackai, Elaine H. ;

Stankiewicz, Pawel ;

Lupski, James R. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (04) :633-649

[30] Epilepsy features in ARID1B-related Coffin- Siris syndrome [J].

Proietti, Jacopo ;

Amadori, Elisabetta ;

Striano, Pasquale ;

Ricci, Emilia ;

Cordelli, Duccio Maria ;

Bana, Cristina ;

Dilena, Robertino ;

Gardella, Elena ;

Nielsen, Jens Erik Klint ;

Pisani, Francesco ;

Lo Barco, Tommaso ;

Fiorini, Elena ;

Fontana, Elena ;

Darra, Francesca ;

Dalla Bernardina, Bernardo ;

Cantalupo, Gaetano .

EPILEPTIC DISORDERS, 2021, 23 (06) :865-874

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