Summary Summary Short summary of a recent publication, written by scientific experts. Published: 27 Nov 2018

Neurologic phenotypes of COL4A1/COL4A2 mutations

Takeaway

  • Epilepsy is the predominant feature in severe and mild phenotypes of neurologic conditions caused by COL4A1/COL4A2 mutations.

Why this matters

  • Early identification of COL4A1/COL4A2 mutation and phenotype can benefit individual patient management.