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dc.contributor.authorPavone, Piero
dc.contributor.authorPappalardo, Xena Giada
dc.contributor.authorMustafa, Naira
dc.contributor.authorCho, Sung Yoon
dc.contributor.authorJin, Dong Kyu
dc.contributor.authorIncorpora, Gemma
dc.contributor.authorFalsaperla, Raffaele
dc.contributor.authorMarino, Simona Domenica
dc.contributor.authorCorsello, Giovanni
dc.contributor.authorParano, Enrico
dc.contributor.authorRuggieri, Martino
dc.date.accessioned2022-03-22T02:01:14Z
dc.date.available2022-03-22T02:01:14Z
dc.date.issued2022-02-17
dc.identifier.issn1720-8424
dc.identifier.other35177115
dc.identifier.otherPMC8851838
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/335277
dc.description.abstractBACKGROUND: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. CASE PRESENTATION: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. CONCLUSIONS: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity.
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourcenlmid: 101510759
dc.sourceessn: 1824-7288
dc.subjectEpilepsy
dc.subjectCase Report
dc.subjectComorbidities
dc.subjectGrin2a
dc.subjectAlternating Hemiplegia Of Childhood (Ahc)
dc.subjectHumans
dc.subjectHemiplegia
dc.subjectMutation
dc.subjectMutation, Missense
dc.subjectChild
dc.subjectInfant
dc.subjectMale
dc.subjectSodium-Potassium-Exchanging ATPase
dc.titleAlternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
dc.typeArticle
dc.date.updated2022-03-22T02:01:14Z
prism.issueIdentifier1
prism.publicationNameItal J Pediatr
prism.volume48
dc.identifier.doi10.17863/CAM.82709
dcterms.dateAccepted2021-12-07
rioxxterms.versionofrecord10.1186/s13052-021-01194-2
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidPavone, Piero [0000-0002-5600-9560]
dc.identifier.eissn1824-7288
cam.issuedOnline2022-02-17


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International