Welcome to the 2nd International SLC – NDD symposium
Aiming to bring together clinicians and researches investigating ion transporter-related neurodevelopmental disorders with purpose of brainstorming, making points on ongoing investigation and updating a program for further research.
Abstract
Recent theories suggest that alterations in the inhibitory strength of chloride (Cl⁻)-dependent GABAergic and glycinergic neurotransmission play a significant role in the development of various neurodevelopmental disorders (NDD). A common pathway for numerous NDDs may involve disruptions in intracellular chloride concentrations ([Cl⁻]i), primarily caused by dysfunctional chloride transporters. One of the key regulators of [Cl⁻]i in the central nervous system is the neuron-specific potassium-chloride cotransporter (KCC2), encoded by the SLC12A5 gene. The critical importance of KCC2 in NDD etiology was underscored by the discovery, between 2016 and 2023, of numerous patient cases harboring different variants of the SLC12A5 gene. These cases are frequently associated with severe forms of NDD and/or epilepsy.
The first SLC12A5-NDD symposium (April, 2023) focused on analyzing new patient cases with SLC12A5 variants, emphasizing the characterization of patient phenotypes and the functional properties of modified KCC2.
Recent advances in this field have brought new evidence implicating other members of the solute carrier (SLC) family in NDD, as well as significant progress in developing therapeutic approaches aimed at restoring neuronal chloride homeostasis to treat related pathologies.
The second SLC-NDD symposium broadens the scope to discuss the role of various SLC family members (and beyond), with particular emphasis on strategies for developing novel therapeutic treatments.
DEADLINES
Registration: 25 February 2025
Abstract submission for oral presentation and poster:25 February 2025
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