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
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: 37596007Free 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
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
McInnis RP,
Ayub MA,
Jing J,
Halford JJ,
Mateen FJ,
Brandon Westover M
Epilepsy Behav
2023 Apr;141:109135.
Epub 2023 Mar 3
doi: 10.1016/j.yebeh.2023.109135.
PMID: 36871319Free PMC Article
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
Valls Carbó A,
Beltrán Á,
Sánchez-Miranda Román I,
Cabal B,
Gómez-Porro P,
Aledo-Serrano Á,
López Sobrino G,
Ayuga F,
Gómez Eguilaz M,
Gil-Nagel A
Epilepsy Behav
2024 Feb;151:109620.
Epub 2024 Jan 8
doi: 10.1016/j.yebeh.2024.109620.
PMID: 38194770
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
Devinsky O,
King L,
Schwartz D,
Conway E,
Price D
Epilepsia
2021 Jul;62(7):e98-e102.
Epub 2021 May 12
doi: 10.1111/epi.16923.
PMID: 33979451Free 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
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: 37596007Free PMC Article
McInnis RP,
Ayub MA,
Jing J,
Halford JJ,
Mateen FJ,
Brandon Westover M
Epilepsy Behav
2023 Apr;141:109135.
Epub 2023 Mar 3
doi: 10.1016/j.yebeh.2023.109135.
PMID: 36871319Free PMC Article
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
Hamano S,
Yoshinari S,
Higurashi N,
Tanaka M,
Minamitani M,
Eto Y
J Pediatr
2007 Mar;150(3):295-9.
doi: 10.1016/j.jpeds.2006.12.004.
PMID: 17307550
Martin LD,
Kaplan AM,
Rudinsky MF,
Frost MD
Pediatr Neurol
1990 Jul-Aug;6(4):260-4.
doi: 10.1016/0887-8994(90)90118-k.
PMID: 2206158
Clinical prediction guides
Crespo Pimentel B,
Kuchukhidze G,
Xiao F,
Caciagli L,
Hoefler J,
Rainer L,
Kronbichler M,
Vollmar C,
Duncan JS,
Trinka E,
Koepp MJ,
Wandschneider B
Neurology
2024 Oct 22;103(8):e209802.
Epub 2024 Sep 20
doi: 10.1212/WNL.0000000000209802.
PMID: 39303180Free PMC Article
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
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
Jansson JS,
Hallböök T,
Reilly C
Epilepsy Behav
2020 Jul;108:107079.
Epub 2020 Apr 22
doi: 10.1016/j.yebeh.2020.107079.
PMID: 32334365
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