Ontology highlight
ABSTRACT:
SUBMITTER: Cellini E
PROVIDER: S-EPMC6777581 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20190125 6
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ectopically retained along the lateral ventricles. Genetic causes include FLNA abnormalities (classical X-linked PNH), rare variants in ARFGEF2, DCHS1, ERMARD, FAT4, INTS8, MAP1B, MCPH1, and NEDD4L, as well as several chromosomal abnormalities. We performed array-CGH in 106 patients with different malformations of cortical development (MCD) and looked for common pathways possibly involved in PNH. Fo ...[more]