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
Bonardi CM,
Heyne HO,
Fiannacca M,
Fitzgerald MP,
Gardella E,
Gunning B,
Olofsson K,
Lesca G,
Verbeek N,
Stamberger H,
Striano P,
Zara F,
Mancardi MM,
Nava C,
Syrbe S,
Buono S,
Baulac S,
Coppola A,
Weckhuysen S,
Schoonjans AS,
Ceulemans B,
Sarret C,
Baumgartner T,
Muhle H,
Portes VD,
Toulouse J,
Nougues MC,
Rossi M,
Demarquay G,
Ville D,
Hirsch E,
Maurey H,
Willems M,
de Bellescize J,
Altuzarra CD,
Villeneuve N,
Bartolomei F,
Picard F,
Hornemann F,
Koolen DA,
Kroes HY,
Reale C,
Fenger CD,
Tan WH,
Dibbens L,
Bearden DR,
Møller RS,
Rubboli G
Brain
2021 Dec 31;144(12):3635-3650.
doi: 10.1093/brain/awab219.
PMID: 34114611
Howell KB,
Freeman JL,
Mackay MT,
Fahey MC,
Archer J,
Berkovic SF,
Chan E,
Dabscheck G,
Eggers S,
Hayman M,
Holberton J,
Hunt RW,
Jacobs SE,
Kornberg AJ,
Leventer RJ,
Mandelstam S,
McMahon JM,
Mefford HC,
Panetta J,
Riseley J,
Rodriguez-Casero V,
Ryan MM,
Schneider AL,
Smith LJ,
Stark Z,
Wong F,
Yiu EM,
Scheffer IE,
Harvey AS
Epilepsia
2021 Feb;62(2):358-370.
Epub 2021 Jan 21
doi: 10.1111/epi.16810.
PMID: 33475165
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
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Diagnosis
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
Bayat A,
Bayat M,
Rubboli G,
Møller RS
Genes (Basel)
2021 Jul 8;12(7)
doi: 10.3390/genes12071051.
PMID: 34356067Free PMC Article
Howell KB,
Freeman JL,
Mackay MT,
Fahey MC,
Archer J,
Berkovic SF,
Chan E,
Dabscheck G,
Eggers S,
Hayman M,
Holberton J,
Hunt RW,
Jacobs SE,
Kornberg AJ,
Leventer RJ,
Mandelstam S,
McMahon JM,
Mefford HC,
Panetta J,
Riseley J,
Rodriguez-Casero V,
Ryan MM,
Schneider AL,
Smith LJ,
Stark Z,
Wong F,
Yiu EM,
Scheffer IE,
Harvey AS
Epilepsia
2021 Feb;62(2):358-370.
Epub 2021 Jan 21
doi: 10.1111/epi.16810.
PMID: 33475165
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
Kuchenbuch M,
Benquet P,
Kaminska A,
Roubertie A,
Carme E,
de Saint Martin A,
Hirsch E,
Dubois F,
Laroche C,
Barcia G,
Chemaly N,
Milh M,
Villeneuve N,
Sauleau P,
Modolo J,
Wendling F,
Nabbout R
Epilepsia
2019 Jan;60(1):20-32.
Epub 2018 Dec 7
doi: 10.1111/epi.14605.
PMID: 30525185
Therapy
Armeno M,
Calligaris S,
Gagiulo D,
Cresta A,
Vaccarezza MM,
Diez CG,
Alberti MJ,
Viollaz R,
Vilavedra F,
Caraballo RH
Epilepsia Open
2024 Feb;9(1):138-149.
Epub 2023 Nov 20
doi: 10.1002/epi4.12836.
PMID: 37759424Free PMC Article
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
Howell KB,
Freeman JL,
Mackay MT,
Fahey MC,
Archer J,
Berkovic SF,
Chan E,
Dabscheck G,
Eggers S,
Hayman M,
Holberton J,
Hunt RW,
Jacobs SE,
Kornberg AJ,
Leventer RJ,
Mandelstam S,
McMahon JM,
Mefford HC,
Panetta J,
Riseley J,
Rodriguez-Casero V,
Ryan MM,
Schneider AL,
Smith LJ,
Stark Z,
Wong F,
Yiu EM,
Scheffer IE,
Harvey AS
Epilepsia
2021 Feb;62(2):358-370.
Epub 2021 Jan 21
doi: 10.1111/epi.16810.
PMID: 33475165
Kuchenbuch M,
Benquet P,
Kaminska A,
Roubertie A,
Carme E,
de Saint Martin A,
Hirsch E,
Dubois F,
Laroche C,
Barcia G,
Chemaly N,
Milh M,
Villeneuve N,
Sauleau P,
Modolo J,
Wendling F,
Nabbout R
Epilepsia
2019 Jan;60(1):20-32.
Epub 2018 Dec 7
doi: 10.1111/epi.14605.
PMID: 30525185
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Prognosis
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
Fang ZX,
Xie LL,
Yan LS,
Lin H,
Pan YN,
Liu BK,
Jiang Y,
Cheng M,
Li XJ,
Jiang L
Epilepsy Res
2021 Aug;174:106669.
Epub 2021 May 12
doi: 10.1016/j.eplepsyres.2021.106669.
PMID: 34020146
Howell KB,
Freeman JL,
Mackay MT,
Fahey MC,
Archer J,
Berkovic SF,
Chan E,
Dabscheck G,
Eggers S,
Hayman M,
Holberton J,
Hunt RW,
Jacobs SE,
Kornberg AJ,
Leventer RJ,
Mandelstam S,
McMahon JM,
Mefford HC,
Panetta J,
Riseley J,
Rodriguez-Casero V,
Ryan MM,
Schneider AL,
Smith LJ,
Stark Z,
Wong F,
Yiu EM,
Scheffer IE,
Harvey AS
Epilepsia
2021 Feb;62(2):358-370.
Epub 2021 Jan 21
doi: 10.1111/epi.16810.
PMID: 33475165
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Shbarou R,
Mikati MA
Semin Pediatr Neurol
2016 May;23(2):134-42.
Epub 2016 Jun 2
doi: 10.1016/j.spen.2016.06.002.
PMID: 27544470
Clinical prediction guides
Bonardi CM,
Heyne HO,
Fiannacca M,
Fitzgerald MP,
Gardella E,
Gunning B,
Olofsson K,
Lesca G,
Verbeek N,
Stamberger H,
Striano P,
Zara F,
Mancardi MM,
Nava C,
Syrbe S,
Buono S,
Baulac S,
Coppola A,
Weckhuysen S,
Schoonjans AS,
Ceulemans B,
Sarret C,
Baumgartner T,
Muhle H,
Portes VD,
Toulouse J,
Nougues MC,
Rossi M,
Demarquay G,
Ville D,
Hirsch E,
Maurey H,
Willems M,
de Bellescize J,
Altuzarra CD,
Villeneuve N,
Bartolomei F,
Picard F,
Hornemann F,
Koolen DA,
Kroes HY,
Reale C,
Fenger CD,
Tan WH,
Dibbens L,
Bearden DR,
Møller RS,
Rubboli G
Brain
2021 Dec 31;144(12):3635-3650.
doi: 10.1093/brain/awab219.
PMID: 34114611
Fang ZX,
Xie LL,
Yan LS,
Lin H,
Pan YN,
Liu BK,
Jiang Y,
Cheng M,
Li XJ,
Jiang L
Epilepsy Res
2021 Aug;174:106669.
Epub 2021 May 12
doi: 10.1016/j.eplepsyres.2021.106669.
PMID: 34020146
Kim HJ,
Yang D,
Kim SH,
Kim B,
Kim HD,
Lee JS,
Choi JR,
Lee ST,
Kang HC
Epileptic Disord
2020 Oct 1;22(5):563-570.
doi: 10.1684/epd.2020.1199.
PMID: 33000761
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
McTague A,
Nair U,
Malhotra S,
Meyer E,
Trump N,
Gazina EV,
Papandreou A,
Ngoh A,
Ackermann S,
Ambegaonkar G,
Appleton R,
Desurkar A,
Eltze C,
Kneen R,
Kumar AV,
Lascelles K,
Montgomery T,
Ramesh V,
Samanta R,
Scott RH,
Tan J,
Whitehouse W,
Poduri A,
Scheffer IE,
Chong WKK,
Cross JH,
Topf M,
Petrou S,
Kurian MA
Neurology
2018 Jan 2;90(1):e55-e66.
Epub 2017 Dec 1
doi: 10.1212/WNL.0000000000004762.
PMID: 29196579Free PMC Article