title: Autosomal recessive form of periventricular heterotopia.
abstract: BACKGROUND
  Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant inheritance pattern.
  
  
  OBJECTIVE
  To classify cortical malformation syndromes associated with PH.
  
  
  METHODS
  Analyses using microsatellite markers directed toward genomic regions of FLNA and to a highly homologous autosomal gene, FLNB, were performed on two pedigrees to evaluate for linkage with either filamin gene.
  
  
  RESULTS
  Two consanguineous pedigrees with PH that suggest an autosomal recessive inheritance pattern are reported. MRI of the brain revealed periventricular nodules of cerebral gray matter intensity, typical for PH. Seizures or developmental delay appeared to be a common presenting feature. Microsatellite analysis suggested no linkage to FLNA or FLNB.
  
  
  CONCLUSIONS
  Autosomal recessive PH is another syndromic migrational disorder, distinct from X-linked dominant PH. Further classification of these different syndromes will provide an approach for genetic evaluation.
authors.affiliation: Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA.
authors.forename: V L
authors.initials: VL
authors.lastname: Sheen
authors.forename: M
authors.initials: M
authors.lastname: Topçu
authors.forename: S
authors.initials: S
authors.lastname: Berkovic
authors.forename: D
authors.initials: D
authors.lastname: Yalnizoglu
authors.forename: I
authors.initials: I
authors.lastname: Blatt
authors.forename: A
authors.initials: A
authors.lastname: Bodell
authors.forename: R S
authors.initials: RS
authors.lastname: Hill
authors.forename: V S
authors.initials: VS
authors.lastname: Ganesh
authors.forename: T J
authors.initials: TJ
authors.lastname: Cherry
authors.forename: Y Y
authors.initials: YY
authors.lastname: Shugart
authors.forename: C A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D000328:Adult; D000368:Aged; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002465:Cell Movement / Q000235:genetics; D002552:Cerebral Ventricles / Q000002:abnormalities*; D002675:Child, Preschool; D002828:Choristoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D003241:Consanguinity; D003285:Contractile Proteins / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D064448:Filamins; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D012640:Seizures / Q000235:genetics; D014421:Turkey / Q000208:ethnology; D015006:Yemen / Q000208:ethnology
chemical_list: D003285:Contractile Proteins; C578662:FLNB protein, human; D064448:Filamins; D008840:Microfilament Proteins