MTOR

Clinical Characteristics

Focal brain malformations including hemimegalencephaly (HMEG) and focal cortical dysplasia (FCD) characterized by early onset, often intractable, epilepsy.
Mutations are most often post-zygotic (mosaic).

Diffuse megalencephaly (MEG) with polymicrogyria with pigmentary abnormalities of the skin associated with:

  • Epilepsy
  • Oromotor dysfunction (expressive speech delay, difficulties handling oral secretions, dysphagia and other feeding issues)

Mutations are post-zygotic (mosaic) or rarely germline (constitutional).

Diffuse megalencephaly without cortical dysplasia associated with:

  • Intellectual disability
  • Autism spectrum disorders
  • Behavioural issues

Mutations are most often heterozygous de novo or rarely post-zygotic (mosaic).