Etiology
D'Gama AM,
Mulhern S,
Sheidley BR,
Boodhoo F,
Buts S,
Chandler NJ,
Cobb J,
Curtis M,
Higginbotham EJ,
Holland J,
Khan T,
Koh J,
Liang NSY,
McRae L,
Nesbitt SE,
Oby BT,
Paternoster B,
Patton A,
Rose G,
Scotchman E,
Valentine R,
Wiltrout KN;
Gene-STEPS Study Group;
IPCHiP Executive Committee,
Hayeems RZ,
Jain P,
Lunke S,
Marshall CR,
Rockowitz S,
Sebire NJ,
Stark Z,
White SM,
Chitty LS,
Cross JH,
Scheffer IE,
Chau V,
Costain G,
Poduri A,
Howell KB,
McTague A
Lancet Neurol
2023 Sep;22(9):812-825.
doi: 10.1016/S1474-4422(23)00246-6.
PMID: 37596007
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
Beck VC,
Isom LL,
Berg AT
J Pediatr
2021 Oct;237:41-49.e1.
Epub 2021 Jun 26
doi: 10.1016/j.jpeds.2021.06.034.
PMID: 34181986Free PMC Article
Burgess R,
Wang S,
McTague A,
Boysen KE,
Yang X,
Zeng Q,
Myers KA,
Rochtus A,
Trivisano M,
Gill D;
EIMFS Consortium,
Sadleir LG,
Specchio N,
Guerrini R,
Marini C,
Zhang YH,
Mefford HC,
Kurian MA,
Poduri AH,
Scheffer IE
Ann Neurol
2019 Dec;86(6):821-831.
doi: 10.1002/ana.25619.
PMID: 31618474Free 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
Diagnosis
D'Gama AM,
Mulhern S,
Sheidley BR,
Boodhoo F,
Buts S,
Chandler NJ,
Cobb J,
Curtis M,
Higginbotham EJ,
Holland J,
Khan T,
Koh J,
Liang NSY,
McRae L,
Nesbitt SE,
Oby BT,
Paternoster B,
Patton A,
Rose G,
Scotchman E,
Valentine R,
Wiltrout KN;
Gene-STEPS Study Group;
IPCHiP Executive Committee,
Hayeems RZ,
Jain P,
Lunke S,
Marshall CR,
Rockowitz S,
Sebire NJ,
Stark Z,
White SM,
Chitty LS,
Cross JH,
Scheffer IE,
Chau V,
Costain G,
Poduri A,
Howell KB,
McTague A
Lancet Neurol
2023 Sep;22(9):812-825.
doi: 10.1016/S1474-4422(23)00246-6.
PMID: 37596007
Beck VC,
Isom LL,
Berg AT
J Pediatr
2021 Oct;237:41-49.e1.
Epub 2021 Jun 26
doi: 10.1016/j.jpeds.2021.06.034.
PMID: 34181986Free PMC Article
Burgess R,
Wang S,
McTague A,
Boysen KE,
Yang X,
Zeng Q,
Myers KA,
Rochtus A,
Trivisano M,
Gill D;
EIMFS Consortium,
Sadleir LG,
Specchio N,
Guerrini R,
Marini C,
Zhang YH,
Mefford HC,
Kurian MA,
Poduri AH,
Scheffer IE
Ann Neurol
2019 Dec;86(6):821-831.
doi: 10.1002/ana.25619.
PMID: 31618474Free PMC Article
Saletti PG,
Ali I,
Casillas-Espinosa PM,
Semple BD,
Lisgaras CP,
Moshé SL,
Galanopoulou AS
Neurobiol Dis
2019 Mar;123:86-99.
Epub 2018 Jun 22
doi: 10.1016/j.nbd.2018.06.017.
PMID: 29936231Free PMC Article
Platzer K,
Yuan H,
Schütz H,
Winschel A,
Chen W,
Hu C,
Kusumoto H,
Heyne HO,
Helbig KL,
Tang S,
Willing MC,
Tinkle BT,
Adams DJ,
Depienne C,
Keren B,
Mignot C,
Frengen E,
Strømme P,
Biskup S,
Döcker D,
Strom TM,
Mefford HC,
Myers CT,
Muir AM,
LaCroix A,
Sadleir L,
Scheffer IE,
Brilstra E,
van Haelst MM,
van der Smagt JJ,
Bok LA,
Møller RS,
Jensen UB,
Millichap JJ,
Berg AT,
Goldberg EM,
De Bie I,
Fox S,
Major P,
Jones JR,
Zackai EH,
Abou Jamra R,
Rolfs A,
Leventer RJ,
Lawson JA,
Roscioli T,
Jansen FE,
Ranza E,
Korff CM,
Lehesjoki AE,
Courage C,
Linnankivi T,
Smith DR,
Stanley C,
Mintz M,
McKnight D,
Decker A,
Tan WH,
Tarnopolsky MA,
Brady LI,
Wolff M,
Dondit L,
Pedro HF,
Parisotto SE,
Jones KL,
Patel AD,
Franz DN,
Vanzo R,
Marco E,
Ranells JD,
Di Donato N,
Dobyns WB,
Laube B,
Traynelis SF,
Lemke JR
J Med Genet
2017 Jul;54(7):460-470.
Epub 2017 Apr 4
doi: 10.1136/jmedgenet-2016-104509.
PMID: 28377535Free PMC Article
Therapy
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
Saletti PG,
Ali I,
Casillas-Espinosa PM,
Semple BD,
Lisgaras CP,
Moshé SL,
Galanopoulou AS
Neurobiol Dis
2019 Mar;123:86-99.
Epub 2018 Jun 22
doi: 10.1016/j.nbd.2018.06.017.
PMID: 29936231Free PMC Article
Huber-Mollema Y,
van Iterson L,
Sander JW,
Oort FJ,
Lindhout D,
Rodenburg R
Epilepsy Behav
2018 Sep;86:187-192.
Epub 2018 Jul 17
doi: 10.1016/j.yebeh.2018.06.043.
PMID: 30030084
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
Platzer K,
Yuan H,
Schütz H,
Winschel A,
Chen W,
Hu C,
Kusumoto H,
Heyne HO,
Helbig KL,
Tang S,
Willing MC,
Tinkle BT,
Adams DJ,
Depienne C,
Keren B,
Mignot C,
Frengen E,
Strømme P,
Biskup S,
Döcker D,
Strom TM,
Mefford HC,
Myers CT,
Muir AM,
LaCroix A,
Sadleir L,
Scheffer IE,
Brilstra E,
van Haelst MM,
van der Smagt JJ,
Bok LA,
Møller RS,
Jensen UB,
Millichap JJ,
Berg AT,
Goldberg EM,
De Bie I,
Fox S,
Major P,
Jones JR,
Zackai EH,
Abou Jamra R,
Rolfs A,
Leventer RJ,
Lawson JA,
Roscioli T,
Jansen FE,
Ranza E,
Korff CM,
Lehesjoki AE,
Courage C,
Linnankivi T,
Smith DR,
Stanley C,
Mintz M,
McKnight D,
Decker A,
Tan WH,
Tarnopolsky MA,
Brady LI,
Wolff M,
Dondit L,
Pedro HF,
Parisotto SE,
Jones KL,
Patel AD,
Franz DN,
Vanzo R,
Marco E,
Ranells JD,
Di Donato N,
Dobyns WB,
Laube B,
Traynelis SF,
Lemke JR
J Med Genet
2017 Jul;54(7):460-470.
Epub 2017 Apr 4
doi: 10.1136/jmedgenet-2016-104509.
PMID: 28377535Free PMC Article
Prognosis
D'Gama AM,
Mulhern S,
Sheidley BR,
Boodhoo F,
Buts S,
Chandler NJ,
Cobb J,
Curtis M,
Higginbotham EJ,
Holland J,
Khan T,
Koh J,
Liang NSY,
McRae L,
Nesbitt SE,
Oby BT,
Paternoster B,
Patton A,
Rose G,
Scotchman E,
Valentine R,
Wiltrout KN;
Gene-STEPS Study Group;
IPCHiP Executive Committee,
Hayeems RZ,
Jain P,
Lunke S,
Marshall CR,
Rockowitz S,
Sebire NJ,
Stark Z,
White SM,
Chitty LS,
Cross JH,
Scheffer IE,
Chau V,
Costain G,
Poduri A,
Howell KB,
McTague A
Lancet Neurol
2023 Sep;22(9):812-825.
doi: 10.1016/S1474-4422(23)00246-6.
PMID: 37596007
Matarrese MAG,
Loppini A,
Fabbri L,
Tamilia E,
Perry MS,
Madsen JR,
Bolton J,
Stone SSD,
Pearl PL,
Filippi S,
Papadelis C
Brain
2023 Sep 1;146(9):3898-3912.
doi: 10.1093/brain/awad118.
PMID: 37018068Free PMC Article
Masnada S,
Pichiecchio A,
Formica M,
Arrigoni F,
Borrelli P,
Accorsi P,
Bonanni P,
Borgatti R,
Bernardina BD,
Danieli A,
Darra F,
Deconinck N,
De Giorgis V,
Dulac O,
Gataullina S,
Giordano L,
Guerrini R,
La Briola F,
Mastrangelo M,
Montomoli M,
Mortilla M,
Osanni E,
Parisi P,
Perucca E,
Pinelli L,
Romaniello R,
Severino M,
Vigevano F,
Vignoli A,
Bahi-Buisson N,
Cavallin M,
Accogli A,
Burgeois M,
Capra V,
Chaves-Vischer V,
Chiapparini L,
Colafati G,
D'Arrigo S,
Desguerre I,
Doco-Fenzy M,
d'Orsi G,
Epitashvili N,
Fazzi E,
Ferretti A,
Fiorini E,
Fradin M,
Fusco C,
Granata T,
Johannesen KM,
Lebon S,
Loget P,
Moller RS,
Montanaro D,
Orcesi S,
Quelin C,
Rebessi E,
Romeo A,
Solazzi R,
Spagnoli C,
Uebler C,
Zara F,
Arzimanoglou A,
Veggiotti P;
Aicardi Syndrome International Study Group
Neurology
2021 Mar 2;96(9):e1319-e1333.
Epub 2020 Dec 4
doi: 10.1212/WNL.0000000000011237.
PMID: 33277420Free PMC Article
Marafi D,
Suter B,
Schultz R,
Glaze D,
Pavlik VN,
Goldman AM
Neurology
2019 Jan 8;92(2):e108-e114.
Epub 2018 Dec 14
doi: 10.1212/WNL.0000000000006742.
PMID: 30552298Free PMC Article
Tzourio-Mazoyer N,
Perrone-Bertolotti M,
Jobard G,
Mazoyer B,
Baciu M
Cortex
2017 Jan;86:314-339.
Epub 2016 Jun 7
doi: 10.1016/j.cortex.2016.05.013.
PMID: 27321148
Clinical prediction guides
Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
Sahu JK
Epilepsia Open
2023 Dec;8(4):1383-1404.
Epub 2023 Aug 25
doi: 10.1002/epi4.12811.
PMID: 37583270Free PMC Article
Matarrese MAG,
Loppini A,
Fabbri L,
Tamilia E,
Perry MS,
Madsen JR,
Bolton J,
Stone SSD,
Pearl PL,
Filippi S,
Papadelis C
Brain
2023 Sep 1;146(9):3898-3912.
doi: 10.1093/brain/awad118.
PMID: 37018068Free PMC Article
Elgendy MM,
Puthuraya S,
LoPiccolo C,
Liu W,
Aly H,
Karnati S
Pediatr Neonatol
2022 Jan;63(1):41-47.
Epub 2021 Aug 28
doi: 10.1016/j.pedneo.2021.06.017.
PMID: 34509386
Burgess R,
Wang S,
McTague A,
Boysen KE,
Yang X,
Zeng Q,
Myers KA,
Rochtus A,
Trivisano M,
Gill D;
EIMFS Consortium,
Sadleir LG,
Specchio N,
Guerrini R,
Marini C,
Zhang YH,
Mefford HC,
Kurian MA,
Poduri AH,
Scheffer IE
Ann Neurol
2019 Dec;86(6):821-831.
doi: 10.1002/ana.25619.
PMID: 31618474Free PMC Article
Tzourio-Mazoyer N,
Perrone-Bertolotti M,
Jobard G,
Mazoyer B,
Baciu M
Cortex
2017 Jan;86:314-339.
Epub 2016 Jun 7
doi: 10.1016/j.cortex.2016.05.013.
PMID: 27321148