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