Etiology
Soldovieri MV,
Ambrosino P,
Mosca I,
Servettini I,
Pietrunti F,
Belperio G;
KCNA3 study group,
Syrbe S,
Taglialatela M,
Lemke JR
Ann Neurol
2024 Feb;95(2):365-376.
Epub 2023 Dec 28
doi: 10.1002/ana.26826.
PMID: 37964487
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
Moreno-De-Luca A,
Millan F,
Pesacreta DR,
Elloumi HZ,
Oetjens MT,
Teigen C,
Wain KE,
Scuffins J,
Myers SM,
Torene RI,
Gainullin VG,
Arvai K,
Kirchner HL,
Ledbetter DH,
Retterer K,
Martin CL
JAMA
2021 Feb 2;325(5):467-475.
doi: 10.1001/jama.2020.26148.
PMID: 33528536Free 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
Bruel AL,
Vitobello A,
Thiffault I,
Manwaring L,
Willing M,
Agrawal PB,
Bayat A,
Kitzler TM,
Brownstein CA,
Genetti CA,
Gonzalez-Heydrich J,
Jayakar P,
Zyskind JW,
Zhu Z,
Vachet C,
Wilson GR,
Pruniski B,
Goyette AM,
Duffourd Y,
Thauvin-Robinet C,
Philippe C,
Faivre L
Eur J Hum Genet
2022 Jan;30(1):111-116.
Epub 2021 Oct 28
doi: 10.1038/s41431-021-00985-9.
PMID: 34707297Free PMC Article
Moreno-De-Luca A,
Millan F,
Pesacreta DR,
Elloumi HZ,
Oetjens MT,
Teigen C,
Wain KE,
Scuffins J,
Myers SM,
Torene RI,
Gainullin VG,
Arvai K,
Kirchner HL,
Ledbetter DH,
Retterer K,
Martin CL
JAMA
2021 Feb 2;325(5):467-475.
doi: 10.1001/jama.2020.26148.
PMID: 33528536Free 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
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
Yates CF,
Malone S,
Riney K,
Shah U,
Wood MJ
Pediatr Neurosurg
2023;58(1):18-28.
Epub 2023 Jan 13
doi: 10.1159/000529098.
PMID: 36693334Free 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
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
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
Macdonald-Laurs E,
Warren AEL,
Francis P,
Mandelstam SA,
Lee WS,
Coleman M,
Stephenson SEM,
Barton S,
D'Arcy C,
Lockhart PJ,
Leventer RJ,
Harvey AS
Brain
2024 Apr 4;147(4):1264-1277.
doi: 10.1093/brain/awad379.
PMID: 37939785
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
Li J,
Ji Z,
Yu J,
Ren J,
Yang F,
Bian L,
Zhi X,
Li G,
Zhang H
Stroke Vasc Neurol
2023 Aug;8(4):292-300.
Epub 2023 Jan 6
doi: 10.1136/svn-2022-001979.
PMID: 36609545Free PMC Article
Cloppenborg T,
van Schooneveld M,
Hagemann A,
Hopf JL,
Kalbhenn T,
Otte WM,
Polster T,
Bien CG,
Braun KPJ
Neurology
2022 Jan 18;98(3):e225-e235.
Epub 2021 Nov 18
doi: 10.1212/WNL.0000000000013065.
PMID: 34795046
Matricardi S,
De Liso P,
Freri E,
Costa P,
Castellotti B,
Magri S,
Gellera C,
Granata T,
Musante L,
Lesca G,
Oertel J,
Craiu D,
Hammer TB,
Møller RS,
Barisic N,
Abou Jamra R,
Polster T,
Vigevano F,
Marini C
Epilepsia
2020 Nov;61(11):2474-2485.
Epub 2020 Oct 16
doi: 10.1111/epi.16699.
PMID: 33063863
Clinical prediction guides
Soldovieri MV,
Ambrosino P,
Mosca I,
Servettini I,
Pietrunti F,
Belperio G;
KCNA3 study group,
Syrbe S,
Taglialatela M,
Lemke JR
Ann Neurol
2024 Feb;95(2):365-376.
Epub 2023 Dec 28
doi: 10.1002/ana.26826.
PMID: 37964487
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
Cloppenborg T,
van Schooneveld M,
Hagemann A,
Hopf JL,
Kalbhenn T,
Otte WM,
Polster T,
Bien CG,
Braun KPJ
Neurology
2022 Jan 18;98(3):e225-e235.
Epub 2021 Nov 18
doi: 10.1212/WNL.0000000000013065.
PMID: 34795046
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