{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T12:40:03Z","timestamp":1756557603534,"version":"3.44.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Alternating Hemiplegia of Childhood (AHC) is a severe channelopathy that manifests before 18\u2009months of age, primarily caused by pathogenic variants in the <jats:italic>ATP1A3<\/jats:italic> gene. It is characterized by recurrent and disabling episodes of plegia, dystonia, dysautonomia, along with chronic neurological features and cardiac arrhythmias. About 50% of AHC patients have epilepsy, and a subset of them may develop refractory or super\u2010refractory status epilepticus. Currently, there are no specific available therapeutic guidelines, particularly for managing life\u2010threatening paroxysmal and epileptic episodes in the Intensive Care Unit (ICU).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>This report aims to illustrate a comprehensive treatment approach and clinical management of a young boy with AHC and multiple episodes of super\u2010refractory status epilepticus throughout his lifetime. The patient was diagnosed with AHC at the age of 6\u2009months, carrying the most severe <jats:italic>ATP1A3<\/jats:italic> gene mutation\u2014p.Glu815Lys. Epileptic seizures started at 24\u2009months of age, and after a relatively stable clinical course, he experienced a first super\u2010refractory status epilepticus at the age of 16. Subsequently, he presented two additional episodes of status epilepticus and faced progressive neurological deterioration until death at the age of 20.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>AHC management is a substantial challenge due to the coexistence of multiple paroxysmal events, epilepsy, chronic neurological impairments, and the possibility of cardiac abnormalities, including short QTc or cardiac rhythm complications. Tailored treatment and deep knowledge of this complex disease are imperative for effective management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epd2.70031","type":"journal-article","created":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T09:15:39Z","timestamp":1747214139000},"page":"660-667","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Practical management of repeated life\u2010threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review"],"prefix":"10.1002","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7287-4159","authenticated-orcid":false,"given":"Ramona","family":"Cordani","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI) University of Genova  Genova Italy"},{"name":"Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit ASST Fatebenefratelli\u2010Sacco  Milan Italy"},{"name":"University of Milano  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Stagnaro","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Lampugnani","sequence":"additional","affiliation":[{"name":"Neonatal and Pediatric Intensive Care Unit, Emergency Department IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Manfredini","sequence":"additional","affiliation":[{"name":"Pediatric Pain and Palliative Care Service IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lino","family":"Nobili","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI) University of Genova  Genova Italy"},{"name":"Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edvige","family":"Veneselli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI) University of Genova  Genova Italy"},{"name":"Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"De Grandis","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI) University of Genova  Genova Italy"},{"name":"Child Neuropsychiatry Unit IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0335-5"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2358"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70182-5"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.10.003"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.658451"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000102"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008159"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq295"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010794"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2017.0913"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010174"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2021.1377"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.03.007"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv243"},{"issue":"4","key":"e_1_2_12_16_1","first-page":"297","article-title":"Anesthetic implications in alternating hemiplegia of childhood: a case report","volume":"90","author":"Funk EM","year":"2022","journal-title":"AANA J"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.2165\/11587550\u2010000000000\u201000000"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-3402005"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2020.107732"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010020\u201009698\u20103"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.02.001"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2020.1127"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T12:04:40Z","timestamp":1756555480000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.70031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,14]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/epd2.70031"],"URL":"https:\/\/doi.org\/10.1002\/epd2.70031","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"type":"print","value":"1294-9361"},{"type":"electronic","value":"1950-6945"}],"subject":[],"published":{"date-parts":[[2025,5,14]]},"assertion":[{"value":"2025-03-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}