Author

Özlem Yayıcı Köken

2 papers indexed here

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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. · Neuromuscular Disorders · 0 citations

Case report Open access Sep 2026

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation-Region Frameshift Variant.

BACKGROUND Familial cerebral cavernous malformation (CCM) is an autosomal dominant vascular disorder with age-dependent penetrance and marked intrafamilial variability. KRIT1 loss-of-function variants are the most common genetic cause, but pediatric genotype-phenotype correlations remain limited. METHODS Clinical, ra...

Özlem Yayıcı Köken, M. S. Yanartaş, H. Aygün et al. · Molecular Genetics & Genomic... · 0 citations