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Author

Bülent Kara

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Review Aug 2026

Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort.

The results highlight the major contribution of a limited number of genes and underscore the importance of early molecular diagnosis in a population with high consanguinity and underscore the importance of early molecular diagnosis in a population with high consanguinity.

Canan Üstün, Ipek Polat, Gülten Öztürk et al. · 0 citations
Sep 2026

Clinical relevance of seizure self-efficacy in pediatric epilepsy: Its associations with depression and anxiety.

Seizure self-efficacy is closely associated with psychological outcomes in pediatric epilepsy and may represent a modifiable risk factor for depression, although they should be interpreted in light of the study's single-center, cross-sectional design and reliance on self-reported measures, which may limit generalizabil...

Gözde Örçen Ergun, Gokce Yagmur Efendi, A. Güneş et al. · 0 citations
Case report Open access Aug 2026

Clinical and Genetic Findings in a Turkish Family With the Recurrent Homozygous EEFSEC p.Asp390Ala Variant.

The EEFSEC gene encodes eukaryotic elongation factor selenocysteine-tRNA-specific, an essential component of the selenoprotein biosynthesis machinery required for normal neurodevelopment. Biallelic EEFSEC variants have recently been associated with a rare autosomal recessive neurodevelopmental disorder with variable ne...

Kubra Ates, Bülent Kara · 0 citations

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