Mechanisms of epileptogenesis in focal cortical dysplasia


  • Somatic mutations in mTOR were shown to cause epileptogenesis through a non-cell autonomous mechanism in a mouse model of focal cortical dysplasia (FCD).

Why this matters

  • Brain somatic mutations, which are acquired after conception, are now considered a major genetic cause of intractable epilepsy.

  • These mutations can occur in as little as 1–2% of neurons, and it is unknown how only a small number of cells can result in synchronized electric discharges and subsequent epilepsy.