{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:14:35Z","timestamp":1792059275915,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T00:00:00Z","timestamp":1627862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004569","name":"Ministerstwo Nauki i Szkolnictwa Wy\u017cszego","doi-asserted-by":"publisher","award":["016\/RID\/2018\/19"],"award-info":[{"award-number":["016\/RID\/2018\/19"]}],"id":[{"id":"10.13039\/501100004569","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in <jats:italic>ATP1A3<\/jats:italic> cause well\u2010known phenotypes\u2014alternating hemiplegia of childhood (AHC), rapid\u2010onset dystonia\u2010parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype\u2013phenotype correlations in the <jats:italic>ATP1A3<\/jats:italic> variants, and a separate phenotype associated with variants in residue 756\u2014two acronyms are proposed for the moment\u2014FIPWE (fever\u2010induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia).<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Herein, we are describing two new pediatric cases with a p.Arg756His change in the <jats:italic>ATP1A3<\/jats:italic>\u00a0gene. Both patients have had more than one episode of a neurological decompensation triggered by fever with severe hypotonia and followed by ataxia. Thirty\u2010three cases from literature were analyzed to define and strengthen the genotype\u2010phenotype correlation of variants located in residue 756 (p.Arg756His, p.Arg756Cys, p.Arg756Leu).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with a <jats:italic>ATP1A3<\/jats:italic> variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1772","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T06:49:46Z","timestamp":1627973386000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Variants of <i>ATP1A3<\/i> in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)\u2014Report of two cases and literature review"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3461-193X","authenticated-orcid":false,"given":"Mateusz","family":"Biela","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6969-0535","authenticated-orcid":false,"given":"Malgorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Szymanska","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Neuropathology Mossakowski Medical Research Centre Polish Academy of Sciences Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Pieniawska\u2010Smiech","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology Wroclaw Medical University Wroclaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Lewandowicz\u2010Uszynska","sequence":"additional","affiliation":[{"name":"Third Department and Clinic of Pediatrics, Immunology and Rheumatology of Developmental Age Wroclaw Medical University Wroclaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Chruszcz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Infectious Diseases Wroclaw Medical University Wroclaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucyna","family":"Benben","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology J. Gromkowski Regional Specialist Hospital Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata","family":"Kuzior\u2010Plawiak","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology J. Gromkowski Regional Specialist Hospital Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Szyld","sequence":"additional","affiliation":[{"name":"Cancer Genetics Unit Cancer Prevention Department The Maria Sklodowska\u2010Curie National Research Institute of Oncology Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Jakubiak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6574-8229","authenticated-orcid":false,"given":"Leszek","family":"Szenborn","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Infectious Diseases Wroclaw Medical University Wroclaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-9549","authenticated-orcid":false,"given":"Robert","family":"Smigiel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22524"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04421.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12927"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12317"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000473"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-016-0498-9"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000145"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-016-0680-6"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.09.010"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12914"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.02.004"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-018-0920-y"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.12.009"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9072220"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-017-2996-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.01.010"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.09.015"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12122"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.04.022"}],"container-title":["Molecular Genetics &amp; 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