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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

S. Efthymiou

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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
Open access Sep 2026

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.

S. Efthymiou, K. Tabata, H. Dafsari 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
Open access Aug 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities

The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.

Carolyn Le, T. Kalaycı, Z. Uyguner et al. · 0 citations

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