Etiology
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
Panagiotakaki E,
Tiziano FD,
Mikati MA,
Vijfhuizen LS,
Nicole S,
Lesca G,
Abiusi E,
Novelli A,
Di Pietro L;
I.B.AHC Consortium;
IAHCRC Consortium,
Harder AVE,
Walley NM,
De Grandis E,
Poulat AL,
Portes VD,
Lépine A,
Nassogne MC,
Arzimanoglou A,
Vavassori R,
Koenderink J,
Thompson CH,
George AL Jr,
Gurrieri F,
van den Maagdenberg AMJM,
Heinzen EL
Eur J Hum Genet
2024 Feb;32(2):224-231.
Epub 2023 Dec 14
doi: 10.1038/s41431-023-01489-4.
PMID: 38097767Free PMC Article
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
Uchitel J,
Abdelnour E,
Boggs A,
Prange L,
Pratt M,
Bonner M,
Jasien J,
Dawson G,
Abrahamsen T,
Mikati MA
Dev Med Child Neurol
2020 Jul;62(7):820-826.
Epub 2020 Feb 7
doi: 10.1111/dmcn.14473.
PMID: 32031250
Diagnosis
Ananthavarathan P,
Kamourieh S
Handb Clin Neurol
2023;198:221-227.
doi: 10.1016/B978-0-12-823356-6.00005-6.
PMID: 38043964
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
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
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
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
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
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
Gordon N
Dev Med Child Neurol
1995 May;37(5):464-8.
doi: 10.1111/j.1469-8749.1995.tb12030.x.
PMID: 7768346
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
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
Gordon N
Dev Med Child Neurol
1995 May;37(5):464-8.
doi: 10.1111/j.1469-8749.1995.tb12030.x.
PMID: 7768346
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
Uchitel J,
Abdelnour E,
Boggs A,
Prange L,
Pratt M,
Bonner M,
Jasien J,
Dawson G,
Abrahamsen T,
Mikati MA
Dev Med Child Neurol
2020 Jul;62(7):820-826.
Epub 2020 Feb 7
doi: 10.1111/dmcn.14473.
PMID: 32031250
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