Gene | Protein name | Expression in EO | Pathway/Function | Disrupted phenotype | Reference |
---|---|---|---|---|---|
atp1a2a | ATPase, Na+/K+ transporting, alpha 2a polypeptide | + | Ion channel transport | Impaired depolarization of the resting membrane potential in slow-twitch fibers of skeletal muscles. | [50] |
chrna7 | cholinergic receptor, nicotinic, alpha 7 (neuronal) | + | Activation of Nicotinic Acetylcholine Receptors | Â | Â |
kcnj9 | potassium inwardly-rectifying channel, subfamily J, member 9 | + | Potassium Channels; GABA receptor activation | Â | Â |
kcnq5a | potassium voltage-gated channel, KQT-like subfamily, member 5a | + | Potassium Channels; Synaptic transmission ion currents | Â | Â |
grik3 | Glutamate Receptor, Ionotropic, Kainate 3 | + | Transmission across Chemical Synapses | Â | Â |
scn4aa | sodium channel, voltage-gated, type IV, alpha, a | + | Ion channel transport; Axon guidance | Â | Â |
kcna3 | potassium voltage-gated channel, shaker-related subfamily, member 3 | - | Potassium Channels; Transmission across Chemical Synapses | Â | Â |
kcnj12 | potassium inwardly-rectifying channel, subfamily J, member 12 | - | Potassium Channels; GABA receptor activation | Â | Â |
cacna2d2 | calcium channel, voltage-dependent, alpha 2/delta subunit 2 | - | Ion channel transport | Â | Â |