Novel COL4A2 mutation causing familial malformations of cortical development.
Sign Up to like & getrecommendations! Published in 2021 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202101_24658
Abstract: OBJECTIVE This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS The first patient is a 65-year-old woman… read more here.
Keywords: novel col4a2; cortical development; col4a2; col4a2 mutation ... See more keywords