Case report: A novel deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.

Defects in are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in Of note, the disease is unexpectedly progressing rapidly and in a biphasic way differently from the previously reported cases. Our study provides the first detailed molecular characterization of a deletion and its underlying molecular mechanism, and demonstrates the need for combining different tools to improve the diagnostic rate.