Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.

Abstract excerpt

Recently, patient advocacy groups started using the name Gould syndrome to describe clinical features of COL4A1 and COL4A2 mutations. Gould syndrome is increasingly identified in genetic screening panels, and because it is a rare disease, there is a disproportionate burden on families to understand the disease and chart the course for clinical care. Among the chief concerns for caregivers of children with Gould...

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• Child
• Collagen Type IV
• Congenital Abnormalities
• Epilepsy
• Mutation