Abstracts

Rationale: SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Patients with Dravet's syndrome are often treated with benzodiazepines, However, we have noted that patients with Dravet's syndrome may have resistance to emergency treatment with rectal diazepam and require higher doses or use of an alternative medication, such as midazolam or ativan Methods: Chart review of patients with SCN1A, SCN1B Results: Five patients with SCN1A did not respond to use of rectal diazepam for prolonged seirues, even at doses up to 3 times the recommended dosage. Two patients with SCN2B diagnoses did respond to rectal diazepam. Conclusions: This suggests that patients diagnosed with SCN1A should immediately use nasal or intramuscular midazolam as rescue therapy, rather than attempting treatment with rectal diazepam. Patients who early on do not respond to rectal diazepam should be considered for genetic testing for SCN1A. Reasons for this wil be considered.