Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort

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dc.authoridCavusoglu, Dilek/0000-0003-4924-5300
dc.authoridUNAY, BULENT/0000-0001-5432-8624
dc.authoridHiz, Ayse Semra/0000-0002-8020-4884
dc.authoridYilmaz, Unsal/0000-0002-7256-8557
dc.authoridTosun, Ayse/0000-0003-4261-1021
dc.authoridedizer, selvinaz/0000-0002-8846-383X
dc.authoridGuzin, Yigithan/0000-0002-8748-5586
dc.contributor.authorUnalp, Aycan
dc.contributor.authorGuzin, Yigithan
dc.contributor.authorUnay, Bulent
dc.contributor.authorTosun, Ayse
dc.contributor.authorCavusoglu, Dilek
dc.contributor.authorTekin, Hande Gazeteci
dc.contributor.authorKurul, Semra Hiz
dc.date.accessioned2025-03-20T09:51:25Z
dc.date.available2025-03-20T09:51:25Z
dc.date.issued2023
dc.departmentİzmir Bakırçay Üniversitesi
dc.description.abstractObjective: As new-generation sequencing methods develop, rare epilepsy is increasing and burdening national health systems-community building among rare epilepsies fuels collaboration, research, and resource development. Comorbidities should be carefully considered in diagnosing and treating children with rare epilepsy. This multicentric study aimed to evaluate the clinical features and comorbidities of children diagnosed with rare childhood genetic epilepsies. Methods: This multicentric study evaluated demographics, clinical findings, neuromotor developmental progress, and concomitant comorbid diseases of childhood rare genetic epilepsies. We included 156 patients from the nine tertiary health centers in our research. Results: The gene variants were distributed to 36 patients (23.1%) with SCN1A, 14 (9%) with KCNQ2, 10 (6.4%) with PCDH19, 6 (3.8%) with SCN8A, 5 (3.2%) with SLC2A1, 5 (3.2%) with WWOX, respectively. The remaining 80 patients (51.3%) were with other gene variants. Comorbid conditions are present in 82% of patients, most commonly intellectual disability (70%), developmental delay (32.1%), and movement disorders 12.8%. Most of the rare genetic epileptic children (52%) were using more than three anti-seizure drugs. In terms of developmental delay in children with rare epilepsy, the neuromotor developmental delay was found to progress with age, shown at the end of 2nd year of treatment. In addition, comorbidity, number of drugs, multiple types of seizures, seizure frequency, age at diagnosis of epilepsy, and duration of epilepsy all affected neuromotor developmental status (p <.05). Significance: Despite using multiple antiseizure medications, most of our patients had drug-resistant epilepsy and concomitant developmental delay. Since a complete cure cannot be achieved in most of these patients further studies with centers' collaboration might help improve therapeutic decisions and precision treatment methods.
dc.identifier.doi10.1002/epd2.20150
dc.identifier.issn1294-9361
dc.identifier.issn1950-6945
dc.identifier.issue6
dc.identifier.pmid37584621
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1002/epd2.20150
dc.identifier.urihttps://hdl.handle.net/20.500.14034/2540
dc.identifier.volume25
dc.identifier.wosWOS:001052434100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofEpileptic Disorders
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250319
dc.subjectchildhood
dc.subjectcomorbidity
dc.subjectgenetic
dc.subjectprecision medicine
dc.subjectrare epilepsy
dc.titleClinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort
dc.typeArticle

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