Etiology
Poke G,
Stanley J,
Scheffer IE,
Sadleir LG
Neurology
2023 Mar 28;100(13):e1363-e1375.
Epub 2022 Dec 29
doi: 10.1212/WNL.0000000000206758.
PMID: 36581463Free PMC Article
Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A
JAMA Neurol
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
PMID: 35499850Free PMC Article
Wirrell EC,
Hood V,
Knupp KG,
Meskis MA,
Nabbout R,
Scheffer IE,
Wilmshurst J,
Sullivan J
Epilepsia
2022 Jul;63(7):1761-1777.
Epub 2022 May 12
doi: 10.1111/epi.17274.
PMID: 35490361Free PMC Article
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free 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
Donnan AM,
Schneider AL,
Russ-Hall S,
Churilov L,
Scheffer IE
Neurology
2023 Apr 18;100(16):e1712-e1722.
Epub 2023 Feb 7
doi: 10.1212/WNL.0000000000207080.
PMID: 36750385Free PMC Article
Poke G,
Stanley J,
Scheffer IE,
Sadleir LG
Neurology
2023 Mar 28;100(13):e1363-e1375.
Epub 2022 Dec 29
doi: 10.1212/WNL.0000000000206758.
PMID: 36581463Free PMC Article
Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A
JAMA Neurol
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
PMID: 35499850Free PMC Article
Wirrell EC,
Hood V,
Knupp KG,
Meskis MA,
Nabbout R,
Scheffer IE,
Wilmshurst J,
Sullivan J
Epilepsia
2022 Jul;63(7):1761-1777.
Epub 2022 May 12
doi: 10.1111/epi.17274.
PMID: 35490361Free PMC Article
Myers KA
Continuum (Minneap Minn)
2022 Apr 1;28(2):339-362.
doi: 10.1212/CON.0000000000001077.
PMID: 35393962
Therapy
Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A
JAMA Neurol
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
PMID: 35499850Free PMC Article
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free PMC Article
Wolff M,
Brunklaus A,
Zuberi SM
Epilepsia
2019 Dec;60 Suppl 3:S59-S67.
doi: 10.1111/epi.14935.
PMID: 31904126
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
dos Santos RG,
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J Clin Pharm Ther
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D'Gama AM,
Mulhern S,
Sheidley BR,
Boodhoo F,
Buts S,
Chandler NJ,
Cobb J,
Curtis M,
Higginbotham EJ,
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Khan T,
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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,
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Lancet Neurol
2023 Sep;22(9):812-825.
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PMID: 37596007
Myers KA
Continuum (Minneap Minn)
2022 Apr 1;28(2):339-362.
doi: 10.1212/CON.0000000000001077.
PMID: 35393962
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free 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
Alam S,
Lux AL
Arch Dis Child
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Paprocka J,
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Epilepsia Open
2024 Aug;9(4):1192-1232.
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Lee HF,
Chi CS
Epilepsy Behav
2023 May;142:109214.
Epub 2023 Apr 21
doi: 10.1016/j.yebeh.2023.109214.
PMID: 37086590
Donnan AM,
Schneider AL,
Russ-Hall S,
Churilov L,
Scheffer IE
Neurology
2023 Apr 18;100(16):e1712-e1722.
Epub 2023 Feb 7
doi: 10.1212/WNL.0000000000207080.
PMID: 36750385Free PMC Article
Knupp KG,
Scheffer IE,
Ceulemans B,
Sullivan JE,
Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Shore S,
Agarwal A,
Lock M,
Farfel GM,
Galer BS,
Gammaitoni AR,
Davis R,
Gil-Nagel A
JAMA Neurol
2022 Jun 1;79(6):554-564.
doi: 10.1001/jamaneurol.2022.0829.
PMID: 35499850Free PMC Article
Inokuchi JI,
Go S,
Yoshikawa M,
Strauss K
Biochim Biophys Acta Gen Subj
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Epub 2017 May 30
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