Therapeutic Focus

Therapeutic Focus

Our initial focus is on Dravet Syndrome (DS), a catastrophic childhood epilepsy. As a group catastrophic childhood epilepsies are characterized by debilitating developmental or cognitive co-morbidities, and seizures in these children are poorly controlled by available antiepileptic drugs (AEDs).

  • Most DS patients carry de novo mutations in SCN1A that result in haploinsufficiency for the voltage-gated sodium channel (VGSC) α subunit Na v 1.1.
  • DS appears during the first year of life, often beginning around six months of age with frequent febrile seizures (fever-related seizures).
  • Epilepsy in these patients is characterized by unilateral clonic or tonic-clonic seizures that progress to status epilepticus.
  • Children with DS typically experience a lagged development of language and motor skills, hyperactivity and sleep difficulties, chronic infection, growth and balance issues, and difficulty relating to others.
  • Children with DS are at a heightened risk of sudden unexpected death in epilepsy (SUDEP).
  • The effects of this disorder do not diminish over time.
  • Children diagnosed with DS require fully committed caretakers with tremendous patience and the ability to monitor them closely.
  • Seizures are frequent in this patient population, sometimes up to hundreds per day, and not well controlled with AEDs or surgery.

Finding new treatments for these children is our top priority.

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