Kim DY, Wertz MH, Gautam V, D'Avanzo C, Bhattacharyya R, Kovacs DM. The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. Neurodegener Dis. 2014;13(2-3):64-8. Epub 2013 Nov 5 PubMed.

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Mutations

  1. PSEN1 E280A (Paisa)