Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Abstract

<i>COL4A1/COL4A2</i> mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying <i>COL4A1/COL4A2</i> mutations may have important clinical consequences, while for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall.