Miller-Dieker syndrome is characterized by severe lissencephaly caused by neuronal migration defects as well as craniofacial defects [13] and is caused by a chromosomal deletion in the 17p13.3 region where the Lis1 (PAFAH1B1) and 14-3-3ε (YWHAE) genes are localized. Here, PAFAH1B1 is linked to Miller-Dieker syndrome.