NeuroscienceBrainPeer-reviewed
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
Marina P. Hommersom, Nina Doorn, Sofía Puvogel…·Hans van Bokhoven
This study characterizes a human neuronal model of CACNA1A haploinsufficiency, revealing synaptic deficits and increased intrinsic excitability linked to reduced potassium channel function.
21 citations