Atehsa Sahagun

The paper generates a collection of 65 isogenic human stem cell lines with PD-associated mutations to study Parkinson's disease, revealing that most genetic variation comes from cell culture rather than genome editing.

This study creates an isogenic single-cell atlas of familial Parkinson's disease mutations, revealing shared transcriptional changes in dopamine neurons across diverse genetic backgrounds.

This study identifies GRP/GRPR signaling in the nucleus accumbens medial shell as a regulator of neuronal excitability and motivation.

This study shows that CRISPR activation can rescue electrophysiological deficits in SCN2A haploinsufficiency by increasing the expression of the remaining functional allele in mice and human neurons.

This study shows that Ank2 and Scn2a work together in dendrites of neocortical neurons, linking their dysfunction to autism spectrum disorder.

This study shows that neuronal activity influences OPC activation, synapse formation onto OPCs, and the balance of excitatory and inhibitory synapses.

The paper quantifies developmental changes in voltage-gated sodium channel exon expression in human and mouse neocortex, identifying key splicing transitions associated with neurological disorders.

The paper shows that loss of NaV1.2 sodium channels in pyramidal neurons leads to hyperexcitability and seizures despite reduced action potential size and speed.