Brian Joseph (@brianjjoseph.bsky.social)

Sharing our latest work, an ALS-related KCNQ2 splice variant that yields a dead channel (no K+ permeability), aggregates in neurons and causes intrinsic hyperexcitability. Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others. www.nature.com/articles/s41...

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TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience TDP-43 dysfunction in ALS/FTD causes faulty splicing of the KCNQ2 ion channel, leading to toxic protein buildup, neuron hyperactivity and a potential new biomarker and treatment target using RNA-based... https://www.nature.com/articles/s41593-025-02096-w