{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:02Z","timestamp":1781613662339,"version":"3.54.5"},"reference-count":17,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.<\/jats:p>","DOI":"10.1055\/s-0041-1739132","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T23:52:12Z","timestamp":1638402732000},"page":"069-074","source":"Crossref","is-referenced-by-count":5,"title":["Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review"],"prefix":"10.1055","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7287-4159","authenticated-orcid":false,"given":"Ramona","family":"Cordani","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7653-981X","authenticated-orcid":false,"given":"Livia","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy"},{"name":"Child Neuropsychiatry Unit, ASST Fatebenefratelli- Sacco, Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Stagnaro","sequence":"additional","affiliation":[{"name":"Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Prato","sequence":"additional","affiliation":[{"name":"Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7802-8789","authenticated-orcid":false,"given":"Thea","family":"Giacomini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy"},{"name":"Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8707-5969","authenticated-orcid":false,"given":"Giovanni","family":"Morana","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of Turin, Turin, Italy"},{"name":"Neuroradiology Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children's Neuroscience Service, Princess Margaret Hospital for Children, Perth, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Twinkle","family":"Ghia","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children's Neuroscience Service, Princess Margaret Hospital for Children, Perth, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lino","family":"Nobili","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy"},{"name":"Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"De Grandis","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy"},{"name":"Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2021,12,1]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1186\/s13023-015-0335-5","article-title":"Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients","volume":"10","author":"E Panagiotakaki","year":"2015","journal-title":"Orphanet J Rare Dis"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.braindev.2017.02.001","article-title":"Alternating hemiplegia of childhood: pharmacological treatment of 30 Italian patients","volume":"39","author":"L Pisciotta","year":"2017","journal-title":"Brain Dev"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1212\/WNL.0000000000002807","article-title":"TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features","volume":"87","author":"S 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Sen","year":"2019","journal-title":"Neuropediatrics"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1739132.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T00:12:44Z","timestamp":1643069564000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1739132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":17,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2022,1,24]]},"published-print":{"date-parts":[[2022,2]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1739132","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,1]]}}}