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A genetic cause for intractable seizures: atypical Gaucher disease with a novel pathological variant

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dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorGürses, Rabia Candan
dc.contributor.kuauthorÜçem, Selen
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:17Z
dc.date.issued2024
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue3
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume26
dc.identifier.doi10.1002/epd2.20204
dc.identifier.eissn1950-6945
dc.identifier.issn1294-9361
dc.identifier.quartileQ3
dc.identifier.scopus2-s2.0-85192234636
dc.identifier.urihttps://doi.org/10.1002/epd2.20204
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22299
dc.identifier.wos1215076800001
dc.keywordsDrug resistant epilepsy
dc.keywordsFemale
dc.keywordsGaucher disease
dc.keywordsGlucosylceramidase
dc.keywordsHumans
dc.keywordsMale
dc.keywordsSeizures
dc.language.isoeng
dc.publisherWILEY
dc.relation.ispartofEpileptic Disorders
dc.subjectClinical neurology
dc.titleA genetic cause for intractable seizures: atypical Gaucher disease with a novel pathological variant
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorÜçem, Selen
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorGürses, Rabia Candan
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
person.familyNameAvcı
person.familyNameGürses
person.familyNameÜçem
person.givenNameŞahin
person.givenNameRabia Candan
person.givenNameSelen
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