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dc.contributor.authorHikmat, Omar
dc.contributor.authorTzoulis, Charalampos
dc.contributor.authorKnappskog, Per
dc.contributor.authorJohansson, Stefan
dc.contributor.authorBoman, Helge
dc.contributor.authorSztromwasser, Pawel Szymon
dc.contributor.authorLien, Espen
dc.contributor.authorBrodtkorb, Eylert
dc.contributor.authorGhezzi, Daniele
dc.contributor.authorBindoff, Laurence
dc.date.accessioned2017-12-12T16:03:32Z
dc.date.available2017-12-12T16:03:32Z
dc.date.created2016-07-17T12:11:19Z
dc.date.issued2016
dc.identifier.citationEuropean Journal of Neurology. 2016, 23 (7), 1188-1194.nb_NO
dc.identifier.issn1351-5101
dc.identifier.urihttp://hdl.handle.net/11250/2470916
dc.description.abstractBackground and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that presents with progressive cerebellar ataxia, epilepsy, migraine and psychiatric disorders. Diagnosis is challenging due to the wide clinical spectrum and overlap with other mitochondrial disorders. Methods A detailed description of three new patients and one previously reported patient from three Norwegian families with novel and known ADCK3 mutations is provided focusing on the epileptic semiology and response to treatment. Mutations were identified by whole exome sequencing and in two measurement of skeletal muscle CoQ10 was performed. Results All four patients presented with childhood-onset epilepsy and progressive cerebellar ataxia. Three patients had epilepsia partialis continua and stroke-like episodes affecting the posterior brain. Electroencephalography showed focal epileptic activity in the occipital and temporal lobes. Genetic investigation revealed ADCK3 mutations in all patients including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype−phenotype correlation. Conclusion ADCK3 mutations can cause a combination of progressive ataxia and acute epileptic encephalopathy with stroke-like episodes. The clinical, radiological and electrophysiological features of this disorder mimic the phenotype of polymerase gamma (POLG) related encephalopathy and it is therefore suggested that ADCK3 mutations be considered in the differential diagnosis of mitochondrial encephalopathy with POLG-like features.nb_NO
dc.language.isoengnb_NO
dc.publisherWileynb_NO
dc.titleADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?nb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionacceptedVersionnb_NO
dc.source.pagenumber1188-1194nb_NO
dc.source.volume23nb_NO
dc.source.journalEuropean Journal of Neurologynb_NO
dc.source.issue7nb_NO
dc.identifier.doi10.1111/ene.13003
dc.identifier.cristin1368296
dc.relation.projectNorges forskningsråd: 240369nb_NO
dc.description.localcode© 2016 EAN. This is the peer reviewed version of the article, which has been published in final form at http://dx.doi.org/10.1111/ene.13003. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.nb_NO
cristin.unitcode194,65,30,0
cristin.unitnameInstitutt for nevromedisin og bevegelsesvitenskap
cristin.ispublishedtrue
cristin.fulltextpostprint
cristin.qualitycode2


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