West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation

West syndrome, a severe form of epileptic encephalopathy, has been linked to mutations in several genes. Banne and collaborators present a severely affected family, with West syndrome, accompanied by severe microcephaly and gray matter heterotopia. By using whole Exome sequencing, a mutation in ARFGEF2, a gene coding a protein involved in the activation of ADP – ribosylation factor and also important for golgi transport. ARFGEF2 was previously described as a cause of microcephaly and heterotopia, but this novel mutation in ARFGEF2 emphasizes it’s importance in West syndrome and shows an extremely severe disease, which includes also a small corpus callosum and severe psychomotor retardation. (By Simon Edvardson MD, http://jmg.bmj.com/content/early/2013/06/27/jmedgenet-2013-101752 )