Philippe Lory

An AI-Enabled Translational Drug Discovery Framework for NALCN Channelopathy: From High-Throughput Screening to Therapeutic Candidate

This paper develops an AI-driven drug discovery framework for NALCN channelopathy, identifying aprepitant as a lead therapeutic candidate through HTS, structural modeling, and experimental validation.

Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders

This study uses automated and manual patch-clamp techniques to analyze Cav3.1 channel variants, identifying gain- and loss-of-function properties linked to neurological disorders.

NALCN/Cch1 channelosome subunits originated in early eukaryotes and are fully conserved in animals, fungi, and apusomonads

This study identifies the ancient eukaryotic origins and conservation of NALCN/Cch1 channelosome subunits across animals, fungi, and apusomonads.

Sex-biased effect of sodium leak channel NALCN deletion in striatal Drd2 spiny projection neurons

This study investigates the sex-specific effects of NALCN deletion in Drd2-expressing striatal spiny projection neurons, revealing sex differences in excitability and behavior.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

This study identifies de novo NALCN mutations causing a new syndrome with congenital contractures, hypotonia, and developmental delay, distinct from known DA2A.