Conditions / Genetic

X-linked epilepsy with variable learning disabilities and behavior disorders

info ยท Genetic

An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.

Signs and symptoms

  • Seizure
  • Aggressive behavior
  • Autistic behavior
  • Specific learning disability
  • Focal-onset seizure
  • Macrocephaly

Also known as: X-linked epilepsy-learning disabilities-behavior disorders syndrome