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dc.contributor.authorStubberud, Anker
dc.contributor.authorO'Connor, Emer
dc.contributor.authorTronvik, Erling Andreas
dc.contributor.authorHoulden, Henry
dc.contributor.authorMatharu, Manjit
dc.date.accessioned2021-10-06T12:44:26Z
dc.date.available2021-10-06T12:44:26Z
dc.date.created2021-06-04T17:20:21Z
dc.date.issued2021
dc.identifier.citationCase Reports in Neurology. 2021, 13 (1), 123-130.en_US
dc.identifier.issn1662-680X
dc.identifier.urihttps://hdl.handle.net/11250/2788162
dc.description.abstractMutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the CACNA1A gene (c.4055G>A, p.R1352Q). The R1352Q CACNA1A variant shares the phenotype with other described CACNA1A mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.en_US
dc.language.isoengen_US
dc.publisherKarger Publishersen_US
dc.rightsAttribution-NonCommercial 4.0 International (CC BY-NC 4.0)*
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/*
dc.titleR1352Q CACNA1A variant in a patient with sporadic hemiplegic migrainem ataxia, seizures and cerebral oedema: A case reporten_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.source.pagenumber123-130en_US
dc.source.volume13en_US
dc.source.journalCase Reports in Neurologyen_US
dc.source.issue1en_US
dc.identifier.doi10.1159/000512275
dc.identifier.cristin1913836
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1


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Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)
Med mindre annet er angitt, så er denne innførselen lisensiert som Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)