Modules seeded with genes strongly associated with epilepsy (e.g., SCN1A, GABRA1, and KCNB1) are significantly associated with synaptic transmission, long-term potentiation, and calcium signaling pathways.
As such, defective IKCs may cause epilepsy through mechanisms other than dysregulated excitability such as, for example, abnormal neuronal development and resulting synaptic connectivity.-Yu, W., Shin, M. R., Sesti, F. Complexes formed with integrin-α5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity <i>via</i> Ras and Akt signaling.
Using whole-exome sequencing, we identified a novel de novo missense (c.1132G>C, p.V378L) KCNB1 mutation in a patient with global developmental delay, intellectual disability, severe speech impairment, but no episode of epilepsy until the lastly examined age of 6 years old.