title: Mutation in PQBP1 is associated with periventricular heterotopia.
authors.affiliation: Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Volney L
authors.initials: VL
authors.lastname: Sheen
authors.forename: Alcy R
authors.initials: AR
authors.lastname: Torres
authors.forename: Xiang
authors.initials: X
authors.lastname: Du
authors.forename: Brenda
authors.initials: B
authors.lastname: Barry
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000235:genetics*; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human