Etiology
Thalwitzer KM,
Driedger JH,
Xian J,
Saffari A,
Zacher P,
Bölsterli BK,
Ruggiero SM,
Sullivan KR,
Datta AN,
Kellinghaus C,
Althaus J,
Wiemer-Kruel A,
van Baalen A,
Pampel A,
Alber M,
Braakman HMH,
Debus OM,
Denecke J,
Hobbiebrunken E,
Breitweg I,
Diehl D,
Eitel H,
Gburek-Augustat J,
Preisel M,
Schlump JU,
Laufs M,
Mammadova D,
Wurst C,
Prager C,
Löhr-Nilles C,
Martin P,
Garbade SF,
Platzer K,
Benkel-Herrenbrueck I,
Egler K,
Fazeli W,
Lemke JR,
Runkel E,
Klein B,
Linden T,
Schröter J,
Steffeck H,
Thies B,
von Deimling F,
Illsinger S,
Borggraefe I,
Classen G,
Wieczorek D,
Ramantani G,
Koelker S,
Hoffmann GF,
Ries M,
Helbig I,
Syrbe S
Neurology
2023 Aug 29;101(9):e879-e891.
Epub 2023 Jul 5
doi: 10.1212/WNL.0000000000207550.
PMID: 37407264Free PMC Article
Knight EMP,
Amin S,
Bahi-Buisson N,
Benke TA,
Cross JH,
Demarest ST,
Olson HE,
Specchio N,
Fleming TR,
Aimetti AA,
Gasior M,
Devinsky O;
Marigold Trial Group
Lancet Neurol
2022 May;21(5):417-427.
doi: 10.1016/S1474-4422(22)00077-1.
PMID: 35429480
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Glass HC,
Soul JS,
Chang T,
Wusthoff CJ,
Chu CJ,
Massey SL,
Abend NS,
Lemmon M,
Thomas C,
Numis AL,
Guillet R,
Sturza J,
McNamara NA,
Rogers EE,
Franck LS,
McCulloch CE,
Shellhaas RA
JAMA Neurol
2021 Jul 1;78(7):817-825.
doi: 10.1001/jamaneurol.2021.1437.
PMID: 34028496Free 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
Diagnosis
van der Veen S,
Tse GTW,
Ferretti A,
Garone G,
Post B,
Specchio N,
Fung VSC,
Trivisano M,
Scheffer IE
Neurology
2023 Nov 7;101(19):e1884-e1892.
Epub 2023 Sep 25
doi: 10.1212/WNL.0000000000207808.
PMID: 37748886Free PMC Article
Thalwitzer KM,
Driedger JH,
Xian J,
Saffari A,
Zacher P,
Bölsterli BK,
Ruggiero SM,
Sullivan KR,
Datta AN,
Kellinghaus C,
Althaus J,
Wiemer-Kruel A,
van Baalen A,
Pampel A,
Alber M,
Braakman HMH,
Debus OM,
Denecke J,
Hobbiebrunken E,
Breitweg I,
Diehl D,
Eitel H,
Gburek-Augustat J,
Preisel M,
Schlump JU,
Laufs M,
Mammadova D,
Wurst C,
Prager C,
Löhr-Nilles C,
Martin P,
Garbade SF,
Platzer K,
Benkel-Herrenbrueck I,
Egler K,
Fazeli W,
Lemke JR,
Runkel E,
Klein B,
Linden T,
Schröter J,
Steffeck H,
Thies B,
von Deimling F,
Illsinger S,
Borggraefe I,
Classen G,
Wieczorek D,
Ramantani G,
Koelker S,
Hoffmann GF,
Ries M,
Helbig I,
Syrbe S
Neurology
2023 Aug 29;101(9):e879-e891.
Epub 2023 Jul 5
doi: 10.1212/WNL.0000000000207550.
PMID: 37407264Free PMC Article
Feng Y,
Wei ZH,
Liu C,
Li GY,
Qiao XZ,
Gan YJ,
Zhang CC,
Deng YC
Seizure
2022 Oct;101:22-29.
Epub 2022 Jul 15
doi: 10.1016/j.seizure.2022.07.007.
PMID: 35850019
Guerrini R,
Parrini E,
Marini C,
Mei D
Epilepsy Behav
2019 Dec;101(Pt B):106373.
Epub 2019 Jul 9
doi: 10.1016/j.yebeh.2019.06.017.
PMID: 31300382
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
Peariso K,
Arya R,
Glauser T,
Abend NS,
Barcia Aguilar C,
Amengual-Gual M,
Anderson A,
Appavu BL,
Brenton JN,
Carpenter J,
Chapman KE,
Clark J,
Gaillard WD,
Gaínza-Lein M,
Goldstein J,
Goodkin H,
Grinspan Z,
Guerriero RM,
Horn PS,
Huh L,
Kahoud R,
Kelley SA,
Kossoff EH,
Kapur K,
Lai YC,
Marquis BO,
McDonough T,
Mikati MA,
Morgan L,
Novotny E,
Ostendorf AP,
Payne ET,
Piantino J,
Riviello J,
Sands T,
Stafstrom CE,
Tasker RC,
Tchapyjnikov D,
Vasquez A,
Wainwright MS,
Wilfong A,
Williams K,
Loddenkemper T;
for Pediatric Status Epilepticus Research Group (pSERG)
Neurology
2023 Aug 1;101(5):e546-e557.
Epub 2023 Jun 9
doi: 10.1212/WNL.0000000000207472.
PMID: 37295955Free PMC Article
Knight EMP,
Amin S,
Bahi-Buisson N,
Benke TA,
Cross JH,
Demarest ST,
Olson HE,
Specchio N,
Fleming TR,
Aimetti AA,
Gasior M,
Devinsky O;
Marigold Trial Group
Lancet Neurol
2022 May;21(5):417-427.
doi: 10.1016/S1474-4422(22)00077-1.
PMID: 35429480
Glass HC,
Soul JS,
Chang T,
Wusthoff CJ,
Chu CJ,
Massey SL,
Abend NS,
Lemmon M,
Thomas C,
Numis AL,
Guillet R,
Sturza J,
McNamara NA,
Rogers EE,
Franck LS,
McCulloch CE,
Shellhaas RA
JAMA Neurol
2021 Jul 1;78(7):817-825.
doi: 10.1001/jamaneurol.2021.1437.
PMID: 34028496Free PMC Article
Berg AT,
Palac H,
Wilkening G,
Zelko F,
Schust Meyer L
Epilepsia
2021 Jan;62(1):258-268.
Epub 2020 Nov 25
doi: 10.1111/epi.16750.
PMID: 33236786
Lux AL,
Edwards SW,
Hancock E,
Johnson AL,
Kennedy CR,
Newton RW,
O'Callaghan FJ,
Verity CM,
Osborne JP;
United Kingdom Infantile Spasms Study
Lancet Neurol
2005 Nov;4(11):712-7.
doi: 10.1016/S1474-4422(05)70199-X.
PMID: 16239177
Prognosis
Peariso K,
Arya R,
Glauser T,
Abend NS,
Barcia Aguilar C,
Amengual-Gual M,
Anderson A,
Appavu BL,
Brenton JN,
Carpenter J,
Chapman KE,
Clark J,
Gaillard WD,
Gaínza-Lein M,
Goldstein J,
Goodkin H,
Grinspan Z,
Guerriero RM,
Horn PS,
Huh L,
Kahoud R,
Kelley SA,
Kossoff EH,
Kapur K,
Lai YC,
Marquis BO,
McDonough T,
Mikati MA,
Morgan L,
Novotny E,
Ostendorf AP,
Payne ET,
Piantino J,
Riviello J,
Sands T,
Stafstrom CE,
Tasker RC,
Tchapyjnikov D,
Vasquez A,
Wainwright MS,
Wilfong A,
Williams K,
Loddenkemper T;
for Pediatric Status Epilepticus Research Group (pSERG)
Neurology
2023 Aug 1;101(5):e546-e557.
Epub 2023 Jun 9
doi: 10.1212/WNL.0000000000207472.
PMID: 37295955Free PMC Article
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Mineyko A,
Kirton A
Pediatr Neurol
2019 Dec;101:39-42.
Epub 2019 Aug 2
doi: 10.1016/j.pediatrneurol.2019.07.013.
PMID: 31495662
Kovacevic J,
Maroteaux G,
Schut D,
Loos M,
Dubey M,
Pitsch J,
Remmelink E,
Koopmans B,
Crowley J,
Cornelisse LN,
Sullivan PF,
Schoch S,
Toonen RF,
Stiedl O,
Verhage M
Brain
2018 May 1;141(5):1350-1374.
doi: 10.1093/brain/awy046.
PMID: 29538625Free PMC Article
Clinical prediction guides
Thalwitzer KM,
Driedger JH,
Xian J,
Saffari A,
Zacher P,
Bölsterli BK,
Ruggiero SM,
Sullivan KR,
Datta AN,
Kellinghaus C,
Althaus J,
Wiemer-Kruel A,
van Baalen A,
Pampel A,
Alber M,
Braakman HMH,
Debus OM,
Denecke J,
Hobbiebrunken E,
Breitweg I,
Diehl D,
Eitel H,
Gburek-Augustat J,
Preisel M,
Schlump JU,
Laufs M,
Mammadova D,
Wurst C,
Prager C,
Löhr-Nilles C,
Martin P,
Garbade SF,
Platzer K,
Benkel-Herrenbrueck I,
Egler K,
Fazeli W,
Lemke JR,
Runkel E,
Klein B,
Linden T,
Schröter J,
Steffeck H,
Thies B,
von Deimling F,
Illsinger S,
Borggraefe I,
Classen G,
Wieczorek D,
Ramantani G,
Koelker S,
Hoffmann GF,
Ries M,
Helbig I,
Syrbe S
Neurology
2023 Aug 29;101(9):e879-e891.
Epub 2023 Jul 5
doi: 10.1212/WNL.0000000000207550.
PMID: 37407264Free PMC Article
Peariso K,
Arya R,
Glauser T,
Abend NS,
Barcia Aguilar C,
Amengual-Gual M,
Anderson A,
Appavu BL,
Brenton JN,
Carpenter J,
Chapman KE,
Clark J,
Gaillard WD,
Gaínza-Lein M,
Goldstein J,
Goodkin H,
Grinspan Z,
Guerriero RM,
Horn PS,
Huh L,
Kahoud R,
Kelley SA,
Kossoff EH,
Kapur K,
Lai YC,
Marquis BO,
McDonough T,
Mikati MA,
Morgan L,
Novotny E,
Ostendorf AP,
Payne ET,
Piantino J,
Riviello J,
Sands T,
Stafstrom CE,
Tasker RC,
Tchapyjnikov D,
Vasquez A,
Wainwright MS,
Wilfong A,
Williams K,
Loddenkemper T;
for Pediatric Status Epilepticus Research Group (pSERG)
Neurology
2023 Aug 1;101(5):e546-e557.
Epub 2023 Jun 9
doi: 10.1212/WNL.0000000000207472.
PMID: 37295955Free PMC Article
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Glass HC,
Soul JS,
Chang T,
Wusthoff CJ,
Chu CJ,
Massey SL,
Abend NS,
Lemmon M,
Thomas C,
Numis AL,
Guillet R,
Sturza J,
McNamara NA,
Rogers EE,
Franck LS,
McCulloch CE,
Shellhaas RA
JAMA Neurol
2021 Jul 1;78(7):817-825.
doi: 10.1001/jamaneurol.2021.1437.
PMID: 34028496Free 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,
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Am J Hum Genet
2017 Nov 2;101(5):664-685.
doi: 10.1016/j.ajhg.2017.09.008.
PMID: 29100083Free PMC Article