Etiology
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
Pinheiro J,
Honavar M
Indian J Pathol Microbiol
2022 May;65(Supplement):S189-S197.
doi: 10.4103/ijpm.ijpm_1226_21.
PMID: 35562149
Subramanian S,
Biswas A,
Alves CAPF,
Sudhakar SV,
Shekdar KV,
Krishnan P,
Shroff M,
Taranath A,
Arrigoni F,
Aldinger KA,
Leventer RJ,
Dobyns WB,
Mankad K
AJNR Am J Neuroradiol
2022 Jan;43(1):146-150.
Epub 2021 Dec 2
doi: 10.3174/ajnr.A7364.
PMID: 34857515Free 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
West S,
Nolan SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2015 Jul 1;(7):CD010541.
doi: 10.1002/14651858.CD010541.pub2.
PMID: 26130264
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.
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
Pinheiro J,
Honavar M
Indian J Pathol Microbiol
2022 May;65(Supplement):S189-S197.
doi: 10.4103/ijpm.ijpm_1226_21.
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.
doi: 10.1002/14651858.CD010541.pub3.
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.
Epub 2017 Apr 4
doi: 10.1136/jmedgenet-2016-104509.
PMID: 28377535Free PMC Article
Therapy
Sidira C,
Vargiami E,
Dragoumi P,
Zafeiriou DI
Eur J Paediatr Neurol
2021 Jan;30:58-65.
Epub 2020 Dec 23
doi: 10.1016/j.ejpn.2020.12.007.
PMID: 33387903
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.
Epub 2020 Jun 19
doi: 10.1080/14737175.2020.1759423.
PMID: 32316776
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
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
West S,
Nolan SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2015 Jul 1;(7):CD010541.
doi: 10.1002/14651858.CD010541.pub2.
PMID: 26130264
Prognosis
Liu X,
Zhu Y,
Liu Q,
Zhang S,
Wu P,
Sun Y,
Zhang J,
Wang R,
Ji T,
Wang S,
Liu X,
Jiang Y,
Cai L,
Wu Y
Epilepsia Open
2023 Sep;8(3):898-911.
Epub 2023 May 16
doi: 10.1002/epi4.12755.
PMID: 37144544Free PMC Article
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
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
West S,
Nolan SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2015 Jul 1;(7):CD010541.
doi: 10.1002/14651858.CD010541.pub2.
PMID: 26130264
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
West S,
Nolan SJ,
Cotton J,
Gandhi S,
Weston J,
Sudan A,
Ramirez R,
Newton R
Cochrane Database Syst Rev
2015 Jul 1;(7):CD010541.
doi: 10.1002/14651858.CD010541.pub2.
PMID: 26130264