Etiology
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
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
Reynolds C,
King MD,
Gorman KM
Eur J Paediatr Neurol
2020 Jan;24:117-122.
Epub 2019 Dec 12
doi: 10.1016/j.ejpn.2019.12.016.
PMID: 31924505
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
Vigevano F
Brain Dev
2005 Apr;27(3):172-7.
doi: 10.1016/j.braindev.2003.12.012.
PMID: 15737697
Arnold ST,
Dodson WE
Baillieres Clin Neurol
1996 Dec;5(4):783-802.
PMID: 9068881
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
Mizrahi EM,
Clancy RR
Ment Retard Dev Disabil Res Rev
2000;6(4):229-41.
doi: 10.1002/1098-2779(2000)6:4<229::AID-MRDD2>3.0.CO;2-Y.
PMID: 11107188
Arnold ST,
Dodson WE
Baillieres Clin Neurol
1996 Dec;5(4):783-802.
PMID: 9068881
Webb R,
Bobele G
J Child Neurol
1990 Oct;5(4):295-8.
doi: 10.1177/088307389000500404.
PMID: 2246482
Prognosis
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
Reynolds C,
King MD,
Gorman KM
Eur J Paediatr Neurol
2020 Jan;24:117-122.
Epub 2019 Dec 12
doi: 10.1016/j.ejpn.2019.12.016.
PMID: 31924505
Specchio N,
Vigevano F
Epilepsy Res
2006 Aug;70 Suppl 1:S156-67.
Epub 2006 Jul 11
doi: 10.1016/j.eplepsyres.2006.01.018.
PMID: 16837167
Arnold ST,
Dodson WE
Baillieres Clin Neurol
1996 Dec;5(4):783-802.
PMID: 9068881
Lee WL,
Low PS,
Rajan U
J Pediatr
1993 Oct;123(4):588-90.
doi: 10.1016/s0022-3476(05)80958-8.
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Clinical prediction guides
Hebbar M,
Al-Taweel N,
Gill I,
Boelman C,
Dean RA,
Goodchild SJ,
Mezeyova J,
Shuart NG,
Johnson JP Jr,
Lee J,
Michoulas A,
Huh LL,
Armstrong L,
Connolly MB,
Demos MK
BMC Neurol
2024 Jan 17;24(1):31.
doi: 10.1186/s12883-023-03478-y.
PMID: 38233770Free PMC Article
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
Reynolds C,
King MD,
Gorman KM
Eur J Paediatr Neurol
2020 Jan;24:117-122.
Epub 2019 Dec 12
doi: 10.1016/j.ejpn.2019.12.016.
PMID: 31924505
Vigevano F,
Fusco L,
Di Capua M,
Ricci S,
Sebastianelli R,
Lucchini P
Eur J Pediatr
1992 Aug;151(8):608-12.
doi: 10.1007/BF01957732.
PMID: 1505581