Aiming to bring together clinicians and researches investigating SLC12A5 -dependent cases of neurodevelopmental disorders (NDD)¹ with purpose of brainstorming, making points on ongoing investigation and updating a program for further research.

¹Recent theory has emerged regarding the implication of the inhibitory strength of Cl- dependent GABAergic and glycinergic neurotransmission in the etiology of many neurodevelopmental disorders (NDD). The perturbation of the intracellular Cl- concentration ([Cl-]i), caused by a dysfunction of Cl- transporters, may be a common pathway for numerous NDD. One of the key molecules in the central nervous system controlling [Cl-]i is a neuron-restricted potassium-chloride cotransporter (KCC2) encoded by the SLC12A5 gene. During the past years, new patients were identified as carriers of different mutations in SLC12A5. The phenotype of patients varies from mild intellectual disability to severe neurodevelopmental delay comorbid with epilepsy. These findings provide a proof of concept for the theory of critical role of perturbed [Cl-]i and/or KCC2 function in aetiology of NDD and open a unique opportunity for creation of cellular and animal models for understanding the mechanisms of NDD formation and developing effective therapeutics.

Regsitration: 10 March 2023

Abstract submission for oral presentation and poster: 17 March 2023

Igor Medina, DR, neurobiologist, INMED, AMU

Gaetan Lesca, Pr, Medical Genetics, CHU Lyon

Sylvie Nguyen The Tich, Pr, Neuropediatrician, CHRU Lille

Christophe Porcher, PR, neurobiologist, INMED, AMU

Mira Hamze, PhD student, neurobiologist, INMED, AMU

Cécile Burban, administration office, INMED