Etiology
Almacellas Barbanoj A,
Graham RT,
Maffei B,
Carpenter JC,
Leite M,
Hoke J,
Hardjo F,
Scott-Solache J,
Chimonides C,
Schorge S,
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Magloire V,
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Elziny S,
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Barba C,
Blumcke I,
Winawer MR,
Hartlieb T,
Kang HC,
Grisotto L,
Chipaux M,
Bien CG,
Heřmanovská B,
Porter BE,
Lidov HGW,
Cetica V,
Woermann FG,
Lopez-Rivera JA,
Canoll PD,
Mader I,
D'Incerti L,
Baldassari S,
Yang E,
Gaballa A,
Vogel H,
Straka B,
Macconi L,
Polster T,
Grant GA,
Krsková L,
Shin HJ,
Ko A,
Crino PB,
Krsek P,
Lee JH,
Lal D,
Baulac S,
Poduri A,
Guerrini R;
SLC35A2 Study Group
Neurology
2023 Jan 31;100(5):e528-e542.
Epub 2022 Oct 28
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Pinheiro J,
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2022 May;65(Supplement):S189-S197.
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West S,
Nevitt SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2019 Jun 25;6(6):CD010541.
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Diagnosis
Barba C,
Blumcke I,
Winawer MR,
Hartlieb T,
Kang HC,
Grisotto L,
Chipaux M,
Bien CG,
Heřmanovská B,
Porter BE,
Lidov HGW,
Cetica V,
Woermann FG,
Lopez-Rivera JA,
Canoll PD,
Mader I,
D'Incerti L,
Baldassari S,
Yang E,
Gaballa A,
Vogel H,
Straka B,
Macconi L,
Polster T,
Grant GA,
Krsková L,
Shin HJ,
Ko A,
Crino PB,
Krsek P,
Lee JH,
Lal D,
Baulac S,
Poduri A,
Guerrini R;
SLC35A2 Study Group
Neurology
2023 Jan 31;100(5):e528-e542.
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López-Rivera JA,
Leu C,
Macnee M,
Khoury J,
Hoffmann L,
Coras R,
Kobow K,
Bhattarai N,
Pérez-Palma E,
Hamer H,
Brandner S,
Rössler K,
Bien CG,
Kalbhenn T,
Pieper T,
Hartlieb T,
Butler E,
Genovese G,
Becker K,
Altmüller J,
Niestroj LM,
Ferguson L,
Busch RM,
Nürnberg P,
Najm I,
Blümcke I,
Lal D
Brain
2023 Apr 19;146(4):1342-1356.
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PMID: 36226386Free PMC Article
Pinheiro J,
Honavar M
Indian J Pathol Microbiol
2022 May;65(Supplement):S189-S197.
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PMID: 35562149
West S,
Nevitt SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2019 Jun 25;6(6):CD010541.
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Platzer K,
Yuan H,
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Winschel A,
Chen W,
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Kusumoto H,
Heyne HO,
Helbig KL,
Tang S,
Willing MC,
Tinkle BT,
Adams DJ,
Depienne C,
Keren B,
Mignot C,
Frengen E,
Strømme P,
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Döcker D,
Strom TM,
Mefford HC,
Myers CT,
Muir AM,
LaCroix A,
Sadleir L,
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Brilstra E,
van Haelst MM,
van der Smagt JJ,
Bok LA,
Møller RS,
Jensen UB,
Millichap JJ,
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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
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2017 Jul;54(7):460-470.
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Therapy
Aledo-Serrano Á,
Valls-Carbó A,
Fenger CD,
Groeppel G,
Hartlieb T,
Pascual I,
Herraez E,
Cabal B,
García-Morales I,
Toledano R,
Budke M,
Beltran-Corbellini Á,
Baldassari S,
Coras R,
Kobow K,
Herrera DM,
Del Barrio A,
Dahl HA,
Del Pino I,
Baulac S,
Blumcke I,
Møller RS,
Gil-Nagel A
Neurotherapeutics
2023 Sep;20(5):1294-1304.
Epub 2023 Jun 6
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PMID: 37278968Free PMC Article
Specchio N,
Pietrafusa N,
Ferretti A,
De Palma L,
Santarone ME,
Pepi C,
Trivisano M,
Vigevano F,
Curatolo P
Expert Rev Neurother
2020 Jun;20(6):551-566.
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West S,
Nevitt SJ,
Cotton J,
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Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2019 Jun 25;6(6):CD010541.
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PMID: 31237346Free 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.
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West S,
Nolan SJ,
Cotton J,
Gandhi S,
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Prognosis
Balestrini S,
Barba C,
Thom M,
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Pract Neurol
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Barba C,
Blumcke I,
Winawer MR,
Hartlieb T,
Kang HC,
Grisotto L,
Chipaux M,
Bien CG,
Heřmanovská B,
Porter BE,
Lidov HGW,
Cetica V,
Woermann FG,
Lopez-Rivera JA,
Canoll PD,
Mader I,
D'Incerti L,
Baldassari S,
Yang E,
Gaballa A,
Vogel H,
Straka B,
Macconi L,
Polster T,
Grant GA,
Krsková L,
Shin HJ,
Ko A,
Crino PB,
Krsek P,
Lee JH,
Lal D,
Baulac S,
Poduri A,
Guerrini R;
SLC35A2 Study Group
Neurology
2023 Jan 31;100(5):e528-e542.
Epub 2022 Oct 28
doi: 10.1212/WNL.0000000000201471.
PMID: 36307217Free PMC Article
West S,
Nevitt SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2019 Jun 25;6(6):CD010541.
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PMID: 31237346Free PMC Article
Adler S,
Lorio S,
Jacques TS,
Benova B,
Gunny R,
Cross JH,
Baldeweg T,
Carmichael DW
Neuroimage Clin
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West S,
Nolan SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
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Cochrane Database Syst Rev
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Clinical prediction guides
Balestrini S,
Barba C,
Thom M,
Guerrini R
Pract Neurol
2023 Aug;23(4):293-302.
Epub 2023 Feb 23
doi: 10.1136/pn-2022-003404.
PMID: 36823117
Barba C,
Blumcke I,
Winawer MR,
Hartlieb T,
Kang HC,
Grisotto L,
Chipaux M,
Bien CG,
Heřmanovská B,
Porter BE,
Lidov HGW,
Cetica V,
Woermann FG,
Lopez-Rivera JA,
Canoll PD,
Mader I,
D'Incerti L,
Baldassari S,
Yang E,
Gaballa A,
Vogel H,
Straka B,
Macconi L,
Polster T,
Grant GA,
Krsková L,
Shin HJ,
Ko A,
Crino PB,
Krsek P,
Lee JH,
Lal D,
Baulac S,
Poduri A,
Guerrini R;
SLC35A2 Study Group
Neurology
2023 Jan 31;100(5):e528-e542.
Epub 2022 Oct 28
doi: 10.1212/WNL.0000000000201471.
PMID: 36307217Free PMC Article
López-Rivera JA,
Leu C,
Macnee M,
Khoury J,
Hoffmann L,
Coras R,
Kobow K,
Bhattarai N,
Pérez-Palma E,
Hamer H,
Brandner S,
Rössler K,
Bien CG,
Kalbhenn T,
Pieper T,
Hartlieb T,
Butler E,
Genovese G,
Becker K,
Altmüller J,
Niestroj LM,
Ferguson L,
Busch RM,
Nürnberg P,
Najm I,
Blümcke I,
Lal D
Brain
2023 Apr 19;146(4):1342-1356.
doi: 10.1093/brain/awac376.
PMID: 36226386Free PMC Article
West S,
Nevitt SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2019 Jun 25;6(6):CD010541.
doi: 10.1002/14651858.CD010541.pub3.
PMID: 31237346Free PMC Article
Guye M,
Bartolomei F,
Ranjeva JP
Rev Neurol (Paris)
2019 Mar;175(3):157-162.
Epub 2019 Mar 1
doi: 10.1016/j.neurol.2019.01.393.
PMID: 30827579