Etiology
Pressler RM,
Abend NS,
Auvin S,
Boylan G,
Brigo F,
Cilio MR,
De Vries LS,
Elia M,
Espeche A,
Hahn CD,
Inder T,
Jette N,
Kakooza-Mwesige A,
Mader S,
Mizrahi EM,
Moshé SL,
Nagarajan L,
Noyman I,
Nunes ML,
Samia P,
Shany E,
Shellhaas RA,
Subota A,
Triki CC,
Tsuchida T,
Vinayan KP,
Wilmshurst JM,
Yozawitz EG,
Hartmann H
Epilepsia
2023 Oct;64(10):2550-2570.
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PMID: 37655702
Komatsu M,
Tanaka N,
Kimura T,
Yazaki M
Nutrients
2023 May 12;15(10)
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PMID: 37242166Free PMC Article
Ziobro J,
Shellhaas RA
Semin Neurol
2020 Apr;40(2):246-256.
Epub 2020 Mar 6
doi: 10.1055/s-0040-1702943.
PMID: 32143234
Shellhaas RA
Handb Clin Neurol
2019;162:347-361.
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Stark Z,
Savarirayan R
Orphanet J Rare Dis
2009 Feb 20;4:5.
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Diagnosis
Trang H,
Samuels M,
Ceccherini I,
Frerick M,
Garcia-Teresa MA,
Peters J,
Schoeber J,
Migdal M,
Markstrom A,
Ottonello G,
Piumelli R,
Estevao MH,
Senecic-Cala I,
Gnidovec-Strazisar B,
Pfleger A,
Porto-Abal R,
Katz-Salamon M
Orphanet J Rare Dis
2020 Sep 21;15(1):252.
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Ziobro J,
Shellhaas RA
Semin Neurol
2020 Apr;40(2):246-256.
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PMID: 32143234
Mercuri E,
Pera MC,
Brogna C
Handb Clin Neurol
2019;162:435-448.
doi: 10.1016/B978-0-444-64029-1.00021-7.
PMID: 31324324
Shellhaas RA
Handb Clin Neurol
2019;162:347-361.
doi: 10.1016/B978-0-444-64029-1.00017-5.
PMID: 31324320
Stark Z,
Savarirayan R
Orphanet J Rare Dis
2009 Feb 20;4:5.
doi: 10.1186/1750-1172-4-5.
PMID: 19232111Free PMC Article
Therapy
Alehashemi S,
Dasari S,
Metpally A,
Uss K,
Castelo-Soccio LA,
Heller T,
Kellman P,
Chen MY,
Ahlman M,
Kim J,
Wargo S,
Kuhns DB,
Fink D,
de Jesus A,
Martin PS,
Chang R,
Bolanos J,
Lee CR,
Nasr SH,
Goldbach-Mansky R,
McPhail E
Arthritis Rheumatol
2024 Jan;76(1):100-106.
Epub 2023 Nov 29
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PMID: 37488949Free PMC Article
Pressler RM,
Abend NS,
Auvin S,
Boylan G,
Brigo F,
Cilio MR,
De Vries LS,
Elia M,
Espeche A,
Hahn CD,
Inder T,
Jette N,
Kakooza-Mwesige A,
Mader S,
Mizrahi EM,
Moshé SL,
Nagarajan L,
Noyman I,
Nunes ML,
Samia P,
Shany E,
Shellhaas RA,
Subota A,
Triki CC,
Tsuchida T,
Vinayan KP,
Wilmshurst JM,
Yozawitz EG,
Hartmann H
Epilepsia
2023 Oct;64(10):2550-2570.
Epub 2023 Sep 1
doi: 10.1111/epi.17745.
PMID: 37655702
Alehashemi S,
Dasari S,
de Jesus AA,
Cowen EW,
Lee CR,
Goldbach-Mansky R,
McPhail ED
JAMA Dermatol
2022 Dec 1;158(12):1454-1457.
doi: 10.1001/jamadermatol.2022.2124.
PMID: 36223107
Ziobro JM,
Eschbach K,
Shellhaas RA
Neurotherapeutics
2021 Jul;18(3):1564-1581.
Epub 2021 Aug 12
doi: 10.1007/s13311-021-01085-8.
PMID: 34386906Free PMC Article
de Lonlay P,
Touati G,
Robert JJ,
Saudubray JM
Semin Neonatol
2002 Feb;7(1):95-100.
doi: 10.1053/siny.2001.0090.
PMID: 12069542
Prognosis
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
Pisani F,
Spagnoli C,
Falsaperla R,
Nagarajan L,
Ramantani G
Seizure
2021 Feb;85:48-56.
Epub 2021 Jan 4
doi: 10.1016/j.seizure.2020.12.023.
PMID: 33418166
Ziobro J,
Shellhaas RA
Semin Neurol
2020 Apr;40(2):246-256.
Epub 2020 Mar 6
doi: 10.1055/s-0040-1702943.
PMID: 32143234
Shellhaas RA
Handb Clin Neurol
2019;162:347-361.
doi: 10.1016/B978-0-444-64029-1.00017-5.
PMID: 31324320
de Lonlay P,
Touati G,
Robert JJ,
Saudubray JM
Semin Neonatol
2002 Feb;7(1):95-100.
doi: 10.1053/siny.2001.0090.
PMID: 12069542
Clinical prediction guides
Berg AT,
Thompson CH,
Myers LS,
Anderson E,
Evans L,
Kaiser AJE,
Paltell K,
Nili AN,
DeKeyser JL,
Abramova TV,
Nesbitt G,
Egan SM,
Vanoye CG,
George AL Jr
Brain
2024 Aug 1;147(8):2761-2774.
doi: 10.1093/brain/awae125.
PMID: 38651838Free PMC Article
Lo RS,
Cromie GA,
Tang M,
Teng K,
Owens K,
Sirr A,
Kutz JN,
Morizono H,
Caldovic L,
Ah Mew N,
Gropman A,
Dudley AM
Am J Hum Genet
2023 May 4;110(5):863-879.
doi: 10.1016/j.ajhg.2023.03.019.
PMID: 37146589Free PMC Article
Ebihara T,
Nagatomo T,
Sugiyama Y,
Tsuruoka T,
Osone Y,
Shimura M,
Tajika M,
Matsuhashi T,
Ichimoto K,
Matsunaga A,
Akiyama N,
Ogawa-Tominaga M,
Yatsuka Y,
Nitta KR,
Kishita Y,
Fushimi T,
Imai-Okazaki A,
Ohtake A,
Okazaki Y,
Murayama K
Arch Dis Child Fetal Neonatal Ed
2022 May;107(3):329-334.
Epub 2021 Oct 7
doi: 10.1136/archdischild-2021-321633.
PMID: 34625524Free 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
Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR
Orphanet J Rare Dis
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
PMID: 22642865Free PMC Article