Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Abstract excerpt

WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not been reported for this disease. Our patient initially developed a prolonged, focal-onset seizure at three months of age and was subsequently noted to have...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain
• Share to Carrier Proteins
• Share to Child