The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations

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dc.authoridUyguner, Zehra Oya/0000-0002-2035-4338
dc.authoridBaykan, Betul/0000-0002-3360-659X
dc.authoridTASDEMIR, VOLKAN/0000-0003-2467-1565
dc.contributor.authorAkarsu, Emel Oguz
dc.contributor.authorBir, Firdevs Dincsoy
dc.contributor.authorBaykal, Can
dc.contributor.authorTasdemir, Volkan
dc.contributor.authorKara, Bulent
dc.contributor.authorBebek, Nerses
dc.contributor.authorGurses, Candan
dc.date.accessioned2025-01-27T21:04:01Z
dc.date.available2025-01-27T21:04:01Z
dc.date.issued2018
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractLipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis. Four of them had seizures (57.1%), and focal seizures with motionless staring were the most common seizure phenotype, originating from bilateral mesial temporal areas, but interictal spikes were scant. Auras were observed in three patients, mostly as epigastric sensation and deja vu, which indicated mesial temporal lobe origin. Three patients with homozygous mutations in sixth and seventh exons of the ECM1 gene had a drug-resistant course at the end of long-term follow-up. Molecular genetic testing showed a rare compound heterozygous mutation in one patient, which was also associated with seizures but without drug-resistance. Our findings indicated a spectrum for epilepsy with a desperate drug-resistant course for decades in most patients with LP, which is still an underrecognized disease by neurologists.
dc.identifier.doi10.1177/1550059417705280
dc.identifier.endpage196
dc.identifier.issn1550-0594
dc.identifier.issn2169-5202
dc.identifier.issue3
dc.identifier.pmid28434238
dc.identifier.scopus2-s2.0-85026733771
dc.identifier.scopusqualityQ2
dc.identifier.startpage192
dc.identifier.urihttps://doi.org/10.1177/1550059417705280
dc.identifier.urihttps://hdl.handle.net/20.500.12428/27528
dc.identifier.volume49
dc.identifier.wosWOS:000430198600007
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSage Publications Inc
dc.relation.ispartofClinical Eeg and Neuroscience
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectlipoid proteinosis
dc.subjectECM1 gene mutation
dc.subjectepilepsy
dc.subjectictal EEG
dc.subjectprognosis
dc.titleThe Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations
dc.typeArticle

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