Polymicrogyria and Intractable Epilepsy in Siblings with Knobloch Syndrome and Homozygous Mutation of COL18A1

We present an unusual case of two brothers with severe global developmental delay, medically intractable epilepsy, diffuse polymicrogyria, and high myopia, born to non-consanguineous parents of Palestinian ethnicity.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Clinical Letter Source Type: research