Etiology
Zuberi SM,
Wirrell E,
Yozawitz E,
Wilmshurst JM,
Specchio N,
Riney K,
Pressler R,
Auvin S,
Samia P,
Hirsch E,
Galicchio S,
Triki C,
Snead OC,
Wiebe S,
Cross JH,
Tinuper P,
Scheffer IE,
Perucca E,
Moshé SL,
Nabbout R
Epilepsia
2022 Jun;63(6):1349-1397.
Epub 2022 May 3
doi: 10.1111/epi.17239.
PMID: 35503712
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
Hamdan FF,
Myers CT,
Cossette P,
Lemay P,
Spiegelman D,
Laporte AD,
Nassif C,
Diallo O,
Monlong J,
Cadieux-Dion M,
Dobrzeniecka S,
Meloche C,
Retterer K,
Cho MT,
Rosenfeld JA,
Bi W,
Massicotte C,
Miguet M,
Brunga L,
Regan BM,
Mo K,
Tam C,
Schneider A,
Hollingsworth G;
Deciphering Developmental Disorders Study,
FitzPatrick DR,
Donaldson A,
Canham N,
Blair E,
Kerr B,
Fry AE,
Thomas RH,
Shelagh J,
Hurst JA,
Brittain H,
Blyth M,
Lebel RR,
Gerkes EH,
Davis-Keppen L,
Stein Q,
Chung WK,
Dorison SJ,
Benke PJ,
Fassi E,
Corsten-Janssen N,
Kamsteeg EJ,
Mau-Them FT,
Bruel AL,
Verloes A,
Õunap K,
Wojcik MH,
Albert DVF,
Venkateswaran S,
Ware T,
Jones D,
Liu YC,
Mohammad SS,
Bizargity P,
Bacino CA,
Leuzzi V,
Martinelli S,
Dallapiccola B,
Tartaglia M,
Blumkin L,
Wierenga KJ,
Purcarin G,
O'Byrne JJ,
Stockler S,
Lehman A,
Keren B,
Nougues MC,
Mignot C,
Auvin S,
Nava C,
Hiatt SM,
Bebin M,
Shao Y,
Scaglia F,
Lalani SR,
Frye RE,
Jarjour IT,
Jacques S,
Boucher RM,
Riou E,
Srour M,
Carmant L,
Lortie A,
Major P,
Diadori P,
Dubeau F,
D'Anjou G,
Bourque G,
Berkovic SF,
Sadleir LG,
Campeau PM,
Kibar Z,
Lafrenière RG,
Girard SL,
Mercimek-Mahmutoglu S,
Boelman C,
Rouleau GA,
Scheffer IE,
Mefford HC,
Andrade DM,
Rossignol E,
Minassian BA,
Michaud JL
Am J Hum Genet
2017 Nov 2;101(5):664-685.
doi: 10.1016/j.ajhg.2017.09.008.
PMID: 29100083Free PMC Article
Vezzani A,
Fujinami RS,
White HS,
Preux PM,
Blümcke I,
Sander JW,
Löscher W
Acta Neuropathol
2016 Feb;131(2):211-234.
Epub 2015 Sep 30
doi: 10.1007/s00401-015-1481-5.
PMID: 26423537Free PMC Article
Shorvon SD
Epilepsia
2011 Jun;52(6):1052-7.
Epub 2011 Mar 30
doi: 10.1111/j.1528-1167.2011.03041.x.
PMID: 21449936
Diagnosis
Wirrell EC,
Nabbout R,
Scheffer IE,
Alsaadi T,
Bogacz A,
French JA,
Hirsch E,
Jain S,
Kaneko S,
Riney K,
Samia P,
Snead OC,
Somerville E,
Specchio N,
Trinka E,
Zuberi SM,
Balestrini S,
Wiebe S,
Cross JH,
Perucca E,
Moshé SL,
Tinuper P
Epilepsia
2022 Jun;63(6):1333-1348.
Epub 2022 May 3
doi: 10.1111/epi.17237.
PMID: 35503715
Zuberi SM,
Wirrell E,
Yozawitz E,
Wilmshurst JM,
Specchio N,
Riney K,
Pressler R,
Auvin S,
Samia P,
Hirsch E,
Galicchio S,
Triki C,
Snead OC,
Wiebe S,
Cross JH,
Tinuper P,
Scheffer IE,
Perucca E,
Moshé SL,
Nabbout R
Epilepsia
2022 Jun;63(6):1349-1397.
Epub 2022 May 3
doi: 10.1111/epi.17239.
PMID: 35503712
Leonard H,
Downs J,
Benke TA,
Swanson L,
Olson H,
Demarest S
Lancet Neurol
2022 Jun;21(6):563-576.
Epub 2022 Apr 25
doi: 10.1016/S1474-4422(22)00035-7.
PMID: 35483386Free PMC Article
Talwar D,
Hammer MF
Pediatr Neurol
2021 Sep;122:76-83.
Epub 2021 Aug 3
doi: 10.1016/j.pediatrneurol.2021.06.011.
PMID: 34353676
Hamdan FF,
Myers CT,
Cossette P,
Lemay P,
Spiegelman D,
Laporte AD,
Nassif C,
Diallo O,
Monlong J,
Cadieux-Dion M,
Dobrzeniecka S,
Meloche C,
Retterer K,
Cho MT,
Rosenfeld JA,
Bi W,
Massicotte C,
Miguet M,
Brunga L,
Regan BM,
Mo K,
Tam C,
Schneider A,
Hollingsworth G;
Deciphering Developmental Disorders Study,
FitzPatrick DR,
Donaldson A,
Canham N,
Blair E,
Kerr B,
Fry AE,
Thomas RH,
Shelagh J,
Hurst JA,
Brittain H,
Blyth M,
Lebel RR,
Gerkes EH,
Davis-Keppen L,
Stein Q,
Chung WK,
Dorison SJ,
Benke PJ,
Fassi E,
Corsten-Janssen N,
Kamsteeg EJ,
Mau-Them FT,
Bruel AL,
Verloes A,
Õunap K,
Wojcik MH,
Albert DVF,
Venkateswaran S,
Ware T,
Jones D,
Liu YC,
Mohammad SS,
Bizargity P,
Bacino CA,
Leuzzi V,
Martinelli S,
Dallapiccola B,
Tartaglia M,
Blumkin L,
Wierenga KJ,
Purcarin G,
O'Byrne JJ,
Stockler S,
Lehman A,
Keren B,
Nougues MC,
Mignot C,
Auvin S,
Nava C,
Hiatt SM,
Bebin M,
Shao Y,
Scaglia F,
Lalani SR,
Frye RE,
Jarjour IT,
Jacques S,
Boucher RM,
Riou E,
Srour M,
Carmant L,
Lortie A,
Major P,
Diadori P,
Dubeau F,
D'Anjou G,
Bourque G,
Berkovic SF,
Sadleir LG,
Campeau PM,
Kibar Z,
Lafrenière RG,
Girard SL,
Mercimek-Mahmutoglu S,
Boelman C,
Rouleau GA,
Scheffer IE,
Mefford HC,
Andrade DM,
Rossignol E,
Minassian BA,
Michaud JL
Am J Hum Genet
2017 Nov 2;101(5):664-685.
doi: 10.1016/j.ajhg.2017.09.008.
PMID: 29100083Free PMC Article
Therapy
Zuberi SM,
Wirrell E,
Yozawitz E,
Wilmshurst JM,
Specchio N,
Riney K,
Pressler R,
Auvin S,
Samia P,
Hirsch E,
Galicchio S,
Triki C,
Snead OC,
Wiebe S,
Cross JH,
Tinuper P,
Scheffer IE,
Perucca E,
Moshé SL,
Nabbout R
Epilepsia
2022 Jun;63(6):1349-1397.
Epub 2022 May 3
doi: 10.1111/epi.17239.
PMID: 35503712
Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A
JAMA Neurol
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
PMID: 35499850Free PMC Article
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free PMC Article
Thiele EA,
Marsh ED,
French JA,
Mazurkiewicz-Beldzinska M,
Benbadis SR,
Joshi C,
Lyons PD,
Taylor A,
Roberts C,
Sommerville K;
GWPCARE4 Study Group
Lancet
2018 Mar 17;391(10125):1085-1096.
Epub 2018 Jan 26
doi: 10.1016/S0140-6736(18)30136-3.
PMID: 29395273
Bikson M,
Grossman P,
Thomas C,
Zannou AL,
Jiang J,
Adnan T,
Mourdoukoutas AP,
Kronberg G,
Truong D,
Boggio P,
Brunoni AR,
Charvet L,
Fregni F,
Fritsch B,
Gillick B,
Hamilton RH,
Hampstead BM,
Jankord R,
Kirton A,
Knotkova H,
Liebetanz D,
Liu A,
Loo C,
Nitsche MA,
Reis J,
Richardson JD,
Rotenberg A,
Turkeltaub PE,
Woods AJ
Brain Stimul
2016 Sep-Oct;9(5):641-661.
Epub 2016 Jun 15
doi: 10.1016/j.brs.2016.06.004.
PMID: 27372845Free PMC Article
Prognosis
Specchio N,
Wirrell EC,
Scheffer IE,
Nabbout R,
Riney K,
Samia P,
Guerreiro M,
Gwer S,
Zuberi SM,
Wilmshurst JM,
Yozawitz E,
Pressler R,
Hirsch E,
Wiebe S,
Cross HJ,
Perucca E,
Moshé SL,
Tinuper P,
Auvin S
Epilepsia
2022 Jun;63(6):1398-1442.
Epub 2022 May 3
doi: 10.1111/epi.17241.
PMID: 35503717
Zuberi SM,
Wirrell E,
Yozawitz E,
Wilmshurst JM,
Specchio N,
Riney K,
Pressler R,
Auvin S,
Samia P,
Hirsch E,
Galicchio S,
Triki C,
Snead OC,
Wiebe S,
Cross JH,
Tinuper P,
Scheffer IE,
Perucca E,
Moshé SL,
Nabbout R
Epilepsia
2022 Jun;63(6):1349-1397.
Epub 2022 May 3
doi: 10.1111/epi.17239.
PMID: 35503712
Talwar D,
Hammer MF
Pediatr Neurol
2021 Sep;122:76-83.
Epub 2021 Aug 3
doi: 10.1016/j.pediatrneurol.2021.06.011.
PMID: 34353676
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
Shorvon SD
Epilepsia
2011 Jun;52(6):1052-7.
Epub 2011 Mar 30
doi: 10.1111/j.1528-1167.2011.03041.x.
PMID: 21449936
Clinical prediction guides
Langhammer F,
Maroofian R,
Badar R,
Gregor A,
Rochman M,
Ratliff JB,
Koopmans M,
Herget T,
Hempel M,
Kortüm F,
Heron D,
Mignot C,
Keren B,
Brooks S,
Botti C,
Ben-Zeev B,
Argilli E,
Sherr EH,
Gowda VK,
Srinivasan VM,
Bakhtiari S,
Kruer MC,
Salih MA,
Kuechler A,
Muller EA,
Blocker K,
Kuismin O,
Park KL,
Kochhar A,
Brown K,
Ramanathan S,
Clark RD,
Elgizouli M,
Melikishvili G,
Tabatadze N,
Stark Z,
Mirzaa GM,
Ong J,
Grasshoff U,
Bevot A,
von Wintzingerode L,
Jamra RA,
Hennig Y,
Goldenberg P,
Al Alam C,
Charif M,
Boulouiz R,
Bellaoui M,
Amrani R,
Al Mutairi F,
Tamim AM,
Abdulwahab F,
Alkuraya FS,
Khouj EM,
Alvi JR,
Sultan T,
Hashemi N,
Karimiani EG,
Ashrafzadeh F,
Imannezhad S,
Efthymiou S,
Houlden H,
Sticht H,
Zweier C
Genet Med
2023 Aug;25(8):100885.
Epub 2023 May 8
doi: 10.1016/j.gim.2023.100885.
PMID: 37165955
Hong W,
Haviland I,
Pestana-Knight E,
Weisenberg JL,
Demarest S,
Marsh ED,
Olson HE
CNS Drugs
2022 Jun;36(6):591-604.
Epub 2022 May 28
doi: 10.1007/s40263-022-00921-5.
PMID: 35633486Free PMC Article
Talwar D,
Hammer MF
Pediatr Neurol
2021 Sep;122:76-83.
Epub 2021 Aug 3
doi: 10.1016/j.pediatrneurol.2021.06.011.
PMID: 34353676
Strehlow V,
Heyne HO,
Vlaskamp DRM,
Marwick KFM,
Rudolf G,
de Bellescize J,
Biskup S,
Brilstra EH,
Brouwer OF,
Callenbach PMC,
Hentschel J,
Hirsch E,
Kind PC,
Mignot C,
Platzer K,
Rump P,
Skehel PA,
Wyllie DJA,
Hardingham GE,
van Ravenswaaij-Arts CMA,
Lesca G,
Lemke JR;
GRIN2A study group
Brain
2019 Jan 1;142(1):80-92.
doi: 10.1093/brain/awy304.
PMID: 30544257Free PMC Article
Hamdan FF,
Myers CT,
Cossette P,
Lemay P,
Spiegelman D,
Laporte AD,
Nassif C,
Diallo O,
Monlong J,
Cadieux-Dion M,
Dobrzeniecka S,
Meloche C,
Retterer K,
Cho MT,
Rosenfeld JA,
Bi W,
Massicotte C,
Miguet M,
Brunga L,
Regan BM,
Mo K,
Tam C,
Schneider A,
Hollingsworth G;
Deciphering Developmental Disorders Study,
FitzPatrick DR,
Donaldson A,
Canham N,
Blair E,
Kerr B,
Fry AE,
Thomas RH,
Shelagh J,
Hurst JA,
Brittain H,
Blyth M,
Lebel RR,
Gerkes EH,
Davis-Keppen L,
Stein Q,
Chung WK,
Dorison SJ,
Benke PJ,
Fassi E,
Corsten-Janssen N,
Kamsteeg EJ,
Mau-Them FT,
Bruel AL,
Verloes A,
Õunap K,
Wojcik MH,
Albert DVF,
Venkateswaran S,
Ware T,
Jones D,
Liu YC,
Mohammad SS,
Bizargity P,
Bacino CA,
Leuzzi V,
Martinelli S,
Dallapiccola B,
Tartaglia M,
Blumkin L,
Wierenga KJ,
Purcarin G,
O'Byrne JJ,
Stockler S,
Lehman A,
Keren B,
Nougues MC,
Mignot C,
Auvin S,
Nava C,
Hiatt SM,
Bebin M,
Shao Y,
Scaglia F,
Lalani SR,
Frye RE,
Jarjour IT,
Jacques S,
Boucher RM,
Riou E,
Srour M,
Carmant L,
Lortie A,
Major P,
Diadori P,
Dubeau F,
D'Anjou G,
Bourque G,
Berkovic SF,
Sadleir LG,
Campeau PM,
Kibar Z,
Lafrenière RG,
Girard SL,
Mercimek-Mahmutoglu S,
Boelman C,
Rouleau GA,
Scheffer IE,
Mefford HC,
Andrade DM,
Rossignol E,
Minassian BA,
Michaud JL
Am J Hum Genet
2017 Nov 2;101(5):664-685.
doi: 10.1016/j.ajhg.2017.09.008.
PMID: 29100083Free PMC Article