{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:07:11Z","timestamp":1792098431504,"version":"4.4.0"},"reference-count":83,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["TACG"],"DOI":"10.2147\/tacg.s210325","type":"journal-article","created":{"date-parts":[[2020,3,29]],"date-time":"2020-03-29T22:34:56Z","timestamp":1585521296000},"page":"71-81","source":"Crossref","is-referenced-by-count":38,"title":["&lt;p&gt;Alternating Hemiplegia of Childhood: Understanding the Genotype\u2013Phenotype Relationship of ATP1A3 Variations&lt;\/p&gt;"],"prefix":"10.2147","volume":"Volume 13","author":[{"given":"Alessandro","family":"Capuano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3029-8536","authenticated-orcid":true,"given":"Giacomo","family":"Garone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5239-6703","authenticated-orcid":true,"given":"Giuseppe","family":"Tiralongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1554-9517","authenticated-orcid":true,"given":"Federica","family":"Graziola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2020,3]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1542\/peds.47.4.675","volume":"47","author":"Verret","year":"1971","journal-title":"Pediatrics"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1111\/j.1469-8749.1980.tb03746.x","volume":"22","author":"Kr\u00e4geloh","year":"1980","journal-title":"Dev Med Child Neurol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/S0022-3476(06)80003-X","volume":"122","author":"Bourgeois","year":"1993","journal-title":"J Pediatr"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"e0127045","DOI":"10.1371\/journal.pone.0127045","volume":"10","author":"Viollet","year":"2015","journal-title":"PLoS One"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"3598","DOI":"10.1093\/brain\/awq295","volume":"133","author":"Panagiotakaki","year":"2010","journal-title":"Brain"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"e534","DOI":"10.1542\/peds.2008-2027","volume":"123","author":"Sweney","year":"2009","journal-title":"Pediatrics"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"e139","DOI":"10.1212\/NXG.0000000000000139","volume":"3","author":"Rosewich","year":"2017","journal-title":"Neurol Genet"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1038\/ng.2358","volume":"44","author":"Heinzen","year":"2012","journal-title":"Nat Genet"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1016\/S1474-4422(12)70182-5","volume":"11","author":"Rosewich","year":"2012","journal-title":"Lancet Neurol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"e56120","DOI":"10.1371\/journal.pone.0056120","volume":"8","author":"Ishii","year":"2013","journal-title":"PLoS One"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","volume":"43","author":"de Carvalho Aguiar","year":"2004","journal-title":"Neuron"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1177\/0883073815579708","volume":"30","author":"Heimer","year":"2015","journal-title":"J Child Neurol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/1750-1172-9-15","volume":"9","author":"Demos","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1111\/epi.12914","volume":"56","author":"Paciorkowski","year":"2015","journal-title":"Epilepsia"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1016\/j.braindev.2018.05.008","volume":"40","author":"Marzin","year":"2018","journal-title":"Brain Dev"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1111\/dmcn.12927","volume":"57","author":"Dard","year":"2015","journal-title":"Dev Med Child Neurol"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1016\/j.ejpn.2019.02.004","volume":"23","author":"Sabouraud","year":"2019","journal-title":"Eur J Paediatr Neurol."},{"key":"ref18","unstructured":"Brashear A, Sweadner KJ, Cook JF, et al. ATP1A3-Related Neurologic Disorders. 2008 Feb 7 [Updated 2018 Feb 22]. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReview\u00ae [Internet]. Seattle, WA: University of Washington, Seattle; 1993\u20132020. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1115\/."},{"key":"ref19","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.ejpn.2017.12.009","volume":"22","author":"Carecchio","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/S1474-4422(14)70011-0","volume":"13","author":"Heinzen","year":"2014","journal-title":"Lancet Neurol"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1212\/WNL.0b013e3181b04acd","volume":"73","author":"Anselm","year":"2009","journal-title":"Neurology"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1186\/s12883-016-0680-6","volume":"16","author":"Kanemasa","year":"2016","journal-title":"BMC Neurol"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1212\/WNL.55.7.991","volume":"55","author":"Pittock","year":"2000","journal-title":"Neurology"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"e145","DOI":"10.1212\/NXG.0000000000000145","volume":"3","author":"Jaffer","year":"2017","journal-title":"Neurol Genet"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"1457","DOI":"10.1002\/mds.25396","volume":"28","author":"Roubergue","year":"2013","journal-title":"Mov Disord"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.pediatrneurol.2014.08.015","volume":"51","author":"Boelman","year":"2014","journal-title":"Pediatr Neurol"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1212\/WNL.0000000000000212","volume":"82","author":"Rosewich","year":"2014","journal-title":"Neurology"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/j.pediatrneurol.2014.09.015","volume":"52","author":"Sweney","year":"2015","journal-title":"Pediatr Neurol"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1111\/dmcn.2019.61.issue-5","volume":"61","author":"Jasien","year":"2019","journal-title":"Develop Med Child Neurol"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1186\/s13023-015-0335-5","volume":"10","author":"Panagiotakaki","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1016\/j.eplepsyres.2010.05.013","volume":"90","author":"Saito","year":"2010","journal-title":"Epilepsy Res"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"e1248","DOI":"10.1212\/WNL.0000000000008159","volume":"93","author":"Uchitel","year":"2019","journal-title":"Neurology"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/S0887-8994(00)00157-0","volume":"23","author":"Mikati","year":"2000","journal-title":"Pediatr Neurol"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.pediatrneurol.2016.12.001","volume":"68","author":"Delorme","year":"2017","journal-title":"Pediatr Neurol"},{"key":"ref35","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1016\/j.ejpn.2018.01.010","volume":"22","author":"Stagnaro","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.braindev.2018.01.002","volume":"40","author":"Schirinzi","year":"2018","journal-title":"Brain Dev"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1212\/WNL.0000000000000102","volume":"82","author":"Sasaki","year":"2014","journal-title":"Neurology"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1002\/mdc3.12263","volume":"3","author":"Pereira","year":"2016","journal-title":"Mov Disord Clin Pract"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"336","DOI":"10.5334\/tohm.255","volume":"5","author":"Termsarasab","year":"2015","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1212\/WNL.44.10.1812","volume":"44","author":"Andermann","year":"1994","journal-title":"Neurology"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"1491","DOI":"10.1212\/WNL.57.8.1491","volume":"57","author":"Chaves-Vischer","year":"2001","journal-title":"Neurology"},{"key":"ref42","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.1016\/j.ejpn.2018.07.012","volume":"22","author":"Maas","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"ref43","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.braindev.2013.06.004","volume":"36","author":"Mangano","year":"2014","journal-title":"Brain Dev"},{"key":"ref44","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/mds.v23:11","volume":"23","author":"Sartori","year":"2008","journal-title":"Mov Disord"},{"key":"ref45","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.braindev.2010.08.008","volume":"33","author":"Vill\u00e9ga","year":"2011","journal-title":"Brain Dev"},{"key":"ref46","doi-asserted-by":"publisher","first-page":"e161","DOI":"10.1212\/WNL.0b013e318271f7a6","volume":"79","author":"Wagener-Schimmel","year":"2012","journal-title":"Neurology"},{"key":"ref47","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1083\/jcb.121.3.579","volume":"121","author":"Mercer","year":"1993","journal-title":"J Cell Biol"},{"key":"ref48","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1002\/cne.v519.2","volume":"519","author":"B\u00f8ttger","year":"2011","journal-title":"J Comp Neurol"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"3433","DOI":"10.1113\/jphysiol.2012.247817","volume":"591","author":"Ikeda","year":"2013","journal-title":"J Physiol"},{"key":"ref50","doi-asserted-by":"publisher","first-page":"209","DOI":"10.3389\/fphys.2016.00209","volume":"7","author":"Holm","year":"2016","journal-title":"Front Physiol"},{"key":"ref51","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/0006-3002(57)90343-8","volume":"23","author":"Skou","year":"1957","journal-title":"Biochim Biophys Acta"},{"key":"ref52","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10158-018-0221-7","volume":"19","author":"Pivovarov","year":"2018","journal-title":"Invert Neurosci"},{"key":"ref53","unstructured":"Pirahanchi Y, Aeddula NR. Physiology, Sodium Potassium Pump (Na+ K+ Pump) [Updated 2019 Jan 21]. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2020. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK537088\/."},{"key":"ref54","doi-asserted-by":"publisher","first-page":"2370","DOI":"10.1093\/hmg\/ddp170","volume":"18","author":"Blanco-Arias","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref55","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1523\/JNEUROSCI.11-02-00381.1991","volume":"11","author":"McGrail","year":"1991","journal-title":"J Neurosci"},{"key":"ref56","doi-asserted-by":"publisher","first-page":"1976","DOI":"10.1074\/jbc.275.3.1976","volume":"275","author":"Crambert","year":"2000","journal-title":"J Biol Chem"},{"key":"ref57","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1016\/j.bbabio.2016.08.009","volume":"1857","author":"Holm","year":"2016","journal-title":"Biochim Biophys Acta"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"371","DOI":"10.3389\/fphys.2017.00371","volume":"8","author":"Clausen","year":"2017","journal-title":"Front Physiol"},{"key":"ref59","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/nature12578","volume":"502","author":"Kanai","year":"2013","journal-title":"Nature"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"6530","DOI":"10.1016\/S0021-9258(19)44725-X","volume":"247","author":"Post","year":"1972","journal-title":"J Biol Chem"},{"key":"ref61","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1038\/nature06419","volume":"450","author":"Morth","year":"2007","journal-title":"Nature"},{"key":"ref62","doi-asserted-by":"publisher","first-page":"13742","DOI":"10.1073\/pnas.0907054106","volume":"106","author":"Ogawa","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref63","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1038\/nature07939","volume":"459","author":"Shinoda","year":"2009","journal-title":"Nature"},{"key":"ref64","doi-asserted-by":"publisher","first-page":"10958","DOI":"10.1073\/pnas.1222308110","volume":"110","author":"Laursen","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref65","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1023\/A:1010623724749","volume":"33","author":"Geering","year":"2001","journal-title":"J Bioenerg Biomembr"},{"key":"ref66","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1097\/MNH.0b013e3283036cbf","volume":"17","author":"Geering","year":"2008","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"ref67","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/s00018-012-1039-9","volume":"70","author":"Reinhard","year":"2013","journal-title":"Cell Mol Life Sci"},{"key":"ref68","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1471-2202-12-16","volume":"12","author":"Blom","year":"2011","journal-title":"BMC Neurosci"},{"key":"ref69","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1016\/j.bbadis.2014.03.002","volume":"1842","author":"Weigand","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"ref70","doi-asserted-by":"publisher","first-page":"26245","DOI":"10.1074\/jbc.M110.123976","volume":"285","author":"Einholm","year":"2010","journal-title":"J Biol Chem"},{"key":"ref71","doi-asserted-by":"publisher","first-page":"14085","DOI":"10.1073\/pnas.0904817106","volume":"106","author":"Clapcote","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref72","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1111\/j.1469-8749.2003.tb00899.x","volume":"45","author":"Kanavakis","year":"2003","journal-title":"Dev Med Child Neurol"},{"key":"ref73","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/s10048-016-0498-9","volume":"18","author":"Hully","year":"2017","journal-title":"Neurogenetics"},{"key":"ref74","doi-asserted-by":"publisher","first-page":"e97274","DOI":"10.1371\/journal.pone.0097274","volume":"9","author":"Yang","year":"2014","journal-title":"PLoS One"},{"key":"ref75","doi-asserted-by":"publisher","first-page":"18539","DOI":"10.1074\/jbc.M601780200","volume":"281","author":"Rodacker","year":"2006","journal-title":"J Biol Chem"},{"key":"ref76","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1002\/1531-8257(199901)14:1<132::AID-MDS1022>3.0.CO;2-J","volume":"14","author":"Brashear","year":"1999","journal-title":"Mov Disord"},{"key":"ref77","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.nbd.2018.03.009","volume":"115","author":"Simmons","year":"2018","journal-title":"Neurobiol Dis"},{"key":"ref78","doi-asserted-by":"publisher","first-page":"104577","DOI":"10.1016\/j.nbd.2019.104577","volume":"132","author":"Arystarkhova","year":"2019","journal-title":"Neurobiol Dis"},{"key":"ref79","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1523\/JNEUROSCI.4464-06.2007","volume":"27","author":"Moseley","year":"2007","journal-title":"J Neurosci"},{"key":"ref80","first-page":"659","volume":"216","author":"DeAndrade","year":"2011","journal-title":"Behav\u00a0Brain\u00a0Res."},{"key":"ref81","doi-asserted-by":"crossref","first-page":"2174","DOI":"10.1073\/pnas.1121504109","volume":"109","author":"Kirshenbaum","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref82","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/epi.12878","volume":"56","author":"Hunanyan","year":"2015","journal-title":"Epilepsia"},{"key":"ref83","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.nbd.2018.07.028","volume":"119","author":"Helseth","year":"2018","journal-title":"Neurobiol Dis"}],"container-title":["The Application of Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=57120","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=57120","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T22:48:40Z","timestamp":1666219720000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/alternating-hemiplegia-of-childhood-understanding-the-genotypendashphe-peer-reviewed-article-TACG"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":83,"URL":"https:\/\/doi.org\/10.2147\/tacg.s210325","relation":{},"ISSN":["1178-704X"],"issn-type":[{"value":"1178-704X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3]]}}}