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Author

G. Lesca

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Open access Oct 2026

Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization.

Mitochondrial diseases (MD) are the most common inherited metabolic disorders and show marked clinical and genetic heterogeneity. Despite widespread use of whole-exome (WES) and whole-genome sequencing (WGS), nearly half of patients remain without molecular diagnosis, partly due to difficulties in interpreting variants...

Lucile Riera-Navarro, Éléonore Birgy, S. Ait-El-Mkadem Saadi et al. · 0 citations
Open access Jul 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.

Maya M. Polovitskaya, T. Tkemaladze, L. Jensen et al. · 0 citations
Open access Aug 2026

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Earlier SCB initiation was associated with earlier seizure offset and more favourable developmental outcomes, underscoring the importance of early genetic diagnosis and timely SCB therapy, and the use of SCBs, particularly CBZ and OXC, as first-line therapy in (LOF) KCNQ2-DEE and SeL(F)NE is supported.

C. Millevert, M. Hairabedian, Samuel Dahan et al. · 1 citation

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