Etiology
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
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
Yang X,
Yang X,
Chen J,
Li S,
Zeng Q,
Huang AY,
Ye AY,
Yu Z,
Wang S,
Jiang Y,
Wu X,
Wu Q,
Wei L,
Zhang Y
Clin Genet
2019 Jul;96(1):43-52.
Epub 2019 Apr 3
doi: 10.1111/cge.13539.
PMID: 30891744Free PMC Article
Pisciotta L,
Gherzi M,
Stagnaro M,
Calevo MG,
Giannotta M,
Vavassori MR,
Veneselli E;
I.B.AHC Consortium,
De Grandis E
Brain Dev
2017 Jun;39(6):521-528.
Epub 2017 Feb 27
doi: 10.1016/j.braindev.2017.02.001.
PMID: 28249736
Diagnosis
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
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
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
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
Therapy
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,
Ramakrishnaiah R
Clin Neuropharmacol
2021 Jan-Feb 01;44(1):23-26.
doi: 10.1097/WNF.0000000000000420.
PMID: 33177352
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
Pisciotta L,
Gherzi M,
Stagnaro M,
Calevo MG,
Giannotta M,
Vavassori MR,
Veneselli E;
I.B.AHC Consortium,
De Grandis E
Brain Dev
2017 Jun;39(6):521-528.
Epub 2017 Feb 27
doi: 10.1016/j.braindev.2017.02.001.
PMID: 28249736
Kanavakis E,
Xaidara A,
Papathanasiou-Klontza D,
Papadimitriou A,
Velentza S,
Youroukos S
Dev Med Child Neurol
2003 Dec;45(12):833-6.
doi: 10.1017/s0012162203001543.
PMID: 14667076
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
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
Wallace K,
Greene E,
Moya-Mendez M,
Freemark M,
Prange L,
Mikati MA
Eur J Paediatr Neurol
2021 May;32:1-7.
Epub 2021 Mar 11
doi: 10.1016/j.ejpn.2021.03.007.
PMID: 33756210
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
Villéga F,
Picard F,
Espil-Taris C,
Husson M,
Michel V,
Pedespan JM
Brain Dev
2011 Jun;33(6):525-9.
Epub 2010 Sep 2
doi: 10.1016/j.braindev.2010.08.008.
PMID: 20817433
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
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