Open AccessReelin' in Genes for Cortical Dysplasia
Author(s) -
Crino Peter B.
Publication year - 2001
Publication title -
epilepsy currents
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.415
H-Index - 22
eISSN - 1535-7511
pISSN - 1535-7597
DOI - 10.1046/j.1535-7597.2001.00014.x
Subject(s) - cytoarchitecture , reelin , cortical dysplasia , gene , cerebral cortex , neuroscience , medicine , positional cloning , epilepsy , bioinformatics , genetics , biology , phenotype , receptor
Malformations of cortical development are a broad family of disorders that are characterized by abnormal cytoarchitecture of the cerebral cortex and a high association with epilepsy. In recent years positional cloning strategies have been implemented to identify several distinct gene mutations that are responsible for developmental brain malformations. The defined functional roles of proteins encoded by these genes have provided pivotal insights into the cellular mechanisms of brain development. Identification of these genes provides important clinical information used in genetic counseling for patients and their families.