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S. Berto

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Open access Jun 2026

Characterization of Electrophysiological and Transcriptomic Alterations in Patient-Derived Neurons from CHAMP1 Syndrome

It is demonstrated that CHAMP1 mutations disrupt multiple aspects of neuronal development, including homologous recombination (HR) dysfunction in NPCs, membrane excitability, ion channel function, and synaptic connectivity.

Dailey Nettles, Christina Stanton, Z. Hunter et al. · 0 citations