Article
COL4A1 mutations should not be a contraindication for epilepsy surgery.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Aug 2014
Papandreou Apostolos, Tisdall Martin M, Chong W K, Cross J Helen, Harkness William F, Varadkar Sophia M
Abstract excerpt
PURPOSE: We describe the first case in the literature of complication-free epilepsy surgery in a paediatric patient with collagen type IV alpha 1 (COL4A1) mutation. METHODS: This is a case report. RESULTS: COL4A1 mutations disrupt the integrity of vascular basement membranes, so predisposing to a broad spectrum of disorders including periventricular leucomalacia, haemorrhagic stroke, aneurysm formation, epilepsy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
