Etiology
Patel SH,
Panagiotakaki E,
Papadopoulou MT,
Fons C,
De Grandis E,
Vezyroglou A,
Balestrini S,
Hong H,
Liu B,
Prange L,
Arzimanoglou A,
Vavassori R,
Mikati MA
J Child Neurol
2023 Oct;38(10-12):597-610.
Epub 2023 Sep 20
doi: 10.1177/08830738231197861.
PMID: 37728088
Hashimoto Y,
Greene C,
Munnich A,
Campbell M
Fluids Barriers CNS
2023 Mar 28;20(1):22.
doi: 10.1186/s12987-023-00424-5.
PMID: 36978081Free PMC Article
Poole J,
Zagaglia S,
Demurtas R,
Farrell F,
Walker MC,
Sisodiya SM,
Balestrini S,
Vivekananda U
PLoS One
2022;17(9):e0268720.
Epub 2022 Sep 30
doi: 10.1371/journal.pone.0268720.
PMID: 36178910Free PMC Article
Severino M,
Pisciotta L,
Tortora D,
Toselli B,
Stagnaro M,
Cordani R,
Morana G,
Zicca A,
Kotzeva S,
Zanaboni C,
Montobbio G,
Rossi A,
De Grandis E;
IBAHC Consortium
J Neurol
2020 May;267(5):1300-1311.
Epub 2020 Jan 16
doi: 10.1007/s00415-020-09698-3.
PMID: 31950366
Heinzen EL,
Arzimanoglou A,
Brashear A,
Clapcote SJ,
Gurrieri F,
Goldstein DB,
Jóhannesson SH,
Mikati MA,
Neville B,
Nicole S,
Ozelius LJ,
Poulsen H,
Schyns T,
Sweadner KJ,
van den Maagdenberg A,
Vilsen B;
ATP1A3 Working Group
Lancet Neurol
2014 May;13(5):503-14.
doi: 10.1016/S1474-4422(14)70011-0.
PMID: 24739246Free PMC Article
Diagnosis
Ananthavarathan P,
Kamourieh S
Handb Clin Neurol
2023;198:221-227.
doi: 10.1016/B978-0-12-823356-6.00005-6.
PMID: 38043964
Calame DG,
Moreno Vadillo C,
Berger S,
Lotze T,
Shinawi M,
Poupak J,
Heller C,
Cohen J,
Person R,
Telegrafi A,
Phitsanuwong C,
Fiala K,
Thiffault I,
Del Viso F,
Zhou D,
Fleming EA,
Pastinen T,
Fatemi A,
Thomas S,
Pascual SI,
Torres RJ,
Prior C,
Gómez-González C,
Biskup S,
Lupski JR,
Maric D,
Holmgren M,
Regier D,
Yano ST
Brain
2023 Aug 1;146(8):3162-3171.
doi: 10.1093/brain/awad124.
PMID: 37043503Free PMC Article
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Blumenfeld AE,
Victorio MC,
Berenson FR
Semin Pediatr Neurol
2016 Feb;23(1):18-22.
Epub 2016 Jan 22
doi: 10.1016/j.spen.2016.01.007.
PMID: 27017017
Heinzen EL,
Arzimanoglou A,
Brashear A,
Clapcote SJ,
Gurrieri F,
Goldstein DB,
Jóhannesson SH,
Mikati MA,
Neville B,
Nicole S,
Ozelius LJ,
Poulsen H,
Schyns T,
Sweadner KJ,
van den Maagdenberg A,
Vilsen B;
ATP1A3 Working Group
Lancet Neurol
2014 May;13(5):503-14.
doi: 10.1016/S1474-4422(14)70011-0.
PMID: 24739246Free PMC Article
Therapy
Patel S,
Maney K,
Morris L,
Papadopoulou MT,
Prange L,
Boggs A,
Hunanyan A,
Megvinov A,
Vavassori R,
Panagiotakaki E,
Mikati MA
Eur J Paediatr Neurol
2024 Mar;49:55-59.
Epub 2024 Feb 12
doi: 10.1016/j.ejpn.2024.02.004.
PMID: 38367370
Parker LE,
Wallace K,
Thevathasan A,
Funk E,
Pratt M,
Thamby J,
Tran L,
Prange L,
Uchitel J,
Boggs A,
Minton M,
Jasien J,
Nagao KJ,
Richards A,
Cruse B,
De-Lisle Dear G,
Landstrom AP,
Mikati MA
Eur J Paediatr Neurol
2022 May;38:47-52.
Epub 2022 Mar 29
doi: 10.1016/j.ejpn.2022.03.007.
PMID: 35390560
Samanta D
Pediatr Neurol
2020 Feb;103:12-20.
Epub 2019 Nov 1
doi: 10.1016/j.pediatrneurol.2019.10.003.
PMID: 31836335
Uchitel J,
Helseth A,
Prange L,
McLean M,
Ghusayni R,
Sachdev M,
Hunanyan A,
Mikati MA
Neurology
2019 Sep 24;93(13):e1248-e1259.
Epub 2019 Sep 4
doi: 10.1212/WNL.0000000000008159.
PMID: 31484714
Kansagra S,
Mikati MA,
Vigevano F
Handb Clin Neurol
2013;112:821-6.
doi: 10.1016/B978-0-444-52910-7.00001-5.
PMID: 23622289
Prognosis
Poole J,
Zagaglia S,
Demurtas R,
Farrell F,
Walker MC,
Sisodiya SM,
Balestrini S,
Vivekananda U
PLoS One
2022;17(9):e0268720.
Epub 2022 Sep 30
doi: 10.1371/journal.pone.0268720.
PMID: 36178910Free PMC Article
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Maas RPPWM,
Kamsteeg EJ,
Mangano S,
Vázquez López ME,
Nicolai J,
Silver K,
Fernández-Alvarez E,
Willemsen MAAP
Eur J Paediatr Neurol
2018 Nov;22(6):1110-1117.
Epub 2018 Aug 15
doi: 10.1016/j.ejpn.2018.07.012.
PMID: 30194039
Kansagra S,
Mikati MA,
Vigevano F
Handb Clin Neurol
2013;112:821-6.
doi: 10.1016/B978-0-444-52910-7.00001-5.
PMID: 23622289
Clinical prediction guides
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Poole J,
Zagaglia S,
Demurtas R,
Farrell F,
Walker MC,
Sisodiya SM,
Balestrini S,
Vivekananda U
PLoS One
2022;17(9):e0268720.
Epub 2022 Sep 30
doi: 10.1371/journal.pone.0268720.
PMID: 36178910Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Pratt M,
Uchitel J,
McGreal N,
Gordon K,
Prange L,
McLean M,
Noel RJ,
Rikard B,
Rogers Boruta MK,
Mikati MA
Orphanet J Rare Dis
2020 Sep 3;15(1):231.
doi: 10.1186/s13023-020-01474-w.
PMID: 32883312Free PMC Article
Severino M,
Pisciotta L,
Tortora D,
Toselli B,
Stagnaro M,
Cordani R,
Morana G,
Zicca A,
Kotzeva S,
Zanaboni C,
Montobbio G,
Rossi A,
De Grandis E;
IBAHC Consortium
J Neurol
2020 May;267(5):1300-1311.
Epub 2020 Jan 16
doi: 10.1007/s00415-020-09698-3.
PMID: 31950366