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dc.contributor.authorHenriksen, Mari Wold
dc.contributor.authorBreck, Hilde
dc.contributor.authorvon Tetzchner, Stephen
dc.contributor.authorPaus, Benedicte
dc.contributor.authorSkjeldal, Ola
dc.contributor.authorBrodtkorb, Eylert
dc.date.accessioned2019-02-25T14:47:23Z
dc.date.available2019-02-25T14:47:23Z
dc.date.created2018-06-30T09:05:35Z
dc.date.issued2018
dc.identifier.citationEpilepsy Research. 2018, 145 134-139.nb_NO
dc.identifier.issn0920-1211
dc.identifier.urihttp://hdl.handle.net/11250/2587297
dc.description.abstractPurpose Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with RTT. Methods Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). Results 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11–20 years), 9 (60%) in young adults (21–30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and ≥ weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group (>30 years), only 19% had obtained seizure control for >5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. Conclusion Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.nb_NO
dc.language.isoengnb_NO
dc.publisherElseviernb_NO
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/deed.no*
dc.titleEpilepsy in classic Rett syndrome: Course and characteristics in adult agenb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionacceptedVersionnb_NO
dc.source.pagenumber134-139nb_NO
dc.source.volume145nb_NO
dc.source.journalEpilepsy Researchnb_NO
dc.identifier.doi10.1016/j.eplepsyres.2018.06.012
dc.identifier.cristin1594930
dc.description.localcode© 2018. This is the authors’ accepted and refereed manuscript to the article. Locked until 23.06.2019 due to copyright restrictions. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/nb_NO
cristin.unitcode194,65,30,0
cristin.unitnameInstitutt for nevromedisin og bevegelsesvitenskap
cristin.ispublishedtrue
cristin.fulltextpostprint
cristin.qualitycode1


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Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal
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