Noa Lipstein
@noalipstein.bsky.social
Junior research group leader at the Leibniz-FMP Berlin. We study the molecular and functional diversity of synapses. Opinions are my own.
This work would not have been possible without the contributions of the affected individuals, their courageous families, and the extensive community of human geneticists and clinicians who came together to make this study possible.
@neurocure.bsky.social
@fmp-berlin.de
@neurocure.bsky.social
@fmp-berlin.de
October 26, 2025 at 1:53 PM
This work would not have been possible without the contributions of the affected individuals, their courageous families, and the extensive community of human geneticists and clinicians who came together to make this study possible.
@neurocure.bsky.social
@fmp-berlin.de
@neurocure.bsky.social
@fmp-berlin.de
Our findings reveal three mechanisms of pathogenicity: loss of UNC13A, gain of function, and dysregulation of UNC13A activity. This study highlights the importance of validated mechanisms of pathogenicity for variants within the same gene, as distinct strategies will be required to address them.
October 26, 2025 at 1:53 PM
Our findings reveal three mechanisms of pathogenicity: loss of UNC13A, gain of function, and dysregulation of UNC13A activity. This study highlights the importance of validated mechanisms of pathogenicity for variants within the same gene, as distinct strategies will be required to address them.