An Italian family carrying a new mutation in the COL4A1 gene

J Neurol Sci. 2020 Jul 15:414:116815. doi: 10.1016/j.jns.2020.116815. Epub 2020 Mar 31.

Authors

A Russo¹, A M Pinto², D Lopergolo³, A Renieri³, C Battisti⁴

Affiliations

¹ Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. Electronic address: alessandro.28russo@gmail.com.
² Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
³ Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
⁴ Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

PMID: 32335342
DOI: 10.1016/j.jns.2020.116815

No abstract available

Keywords: COL4A1 gene; Epilepsy; Fundus oculi; Headache; Leukoencephalopathy; Small vessel disease; Stroke.

Publication types

Case Reports
Letter

MeSH terms

Cerebral Hemorrhage*
Collagen Type IV* / genetics
Humans
Italy
Mutation / genetics

Substances

COL4A1 protein, human
Collagen Type IV