Author

S. Cabet

2 papers indexed here

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Case report Open access Sep 2026

Case Report: Sustained Cognitive Improvement and Reversible Brain Hypoperfusion in the Context of Posterior Fossa Arachnoid Cyst Shunting Procedure in KBG Syndrome

KBG syndrome is a genetic syndrome characterized by developmental delay, mild autism spectrum disorder (ASD), variable cognitive disorders and distinctive craniofacial and skeletal features. Posterior fossa arachnoid cysts (PFACs) have been reported in this condition as in other syndromic forms of ASD, but their impact...

A. Fabre, M. Cuny, L. Fillon et al. · Cerebellum · 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. · EMBO Molecular Medicine · 0 citations