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Author

Busra Aynekin

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Case report Open access Oct 2026

Anti-CASPR2 antibody associated Morvan syndrome in adolescents: dramatic response to immunotherapy: a case series.

BACKGROUND Morvan Syndrome is an ultra rare autoimmune channelopathy characterized by neuromyotonia, autonomic instability, and central nervous system involvement. While typically associated with thymoma in adults, its manifestation in adolescents is exceptionally rare and poses significant diagnostic challenges. CAS...

B. Aynekin, S. Efthymiou, H. Houlden et al. · 0 citations
Case report Jul 2026

“Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters”

This is the first report of the c.470_471del (p.Leu157ArgfsTer4) variant in a homozygous state, providing novel insights into genotype–phenotype correlations and significantly broaden the known clinical spectrum of METTL23-associated disorders.

Mücahid Besnek, Busra Aynekin, Ayten Güleç et al. · 0 citations

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