Browse Items (4 total)

Background: We describe an infant with a diagnosis of GM3 synthase deficiency, presenting with severe neuroirritability from birth. He required multiple admissions due to extreme agitation and caregiver burnout. Multiple pharmacological agents were…

Abstract
A child with Dravet syndrome shakes family life to the core. Dravet syndrome usually has three phases: (1) up to 1-1½ years: with episodes of febrile status epilepticus but normal development; (2) age 1½ to ~6-10 years: with frequent…
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