Conditions We Treat

The clinic specializes in helping manage several epilepsy syndromes often associated with genetic mutations, including:

  • Infantile spasms
  • Lennox-Gastaut syndrome
  • Dravet syndrome
  • Malignant migrating partial seizures of infancy
  • Progressive myoclonic epilepsy
  • Epileptic encephalopathy
  • Acquired epileptic aphasia
  • Atypical Rett syndrome

The clinic has experience investigating and treating patients with various diseases caused by ion channel mutations (known as channelopathies) that damage the way cells function:

  • Sodium channel (SCN1A, SCN1B, SCN2A, SCN8A)
  • Potassium channel (KCNB1, KCNT1, KCNC1, KCNQ2, KCNQ3, KCNQ10)
  • NMDA receptor (GRIN2A, GRIN2B)
  • Calcium channel (CACNA1A, CACNA1E)
  • Glucose transporter (SLC2A1)

The clinic works with rare single-gene disorders such as (but not limited to):

  • CDKL5
  • PCDH19
  • FOXG1
  • NGLY1
  • STXBP1