periventricular cortical heterotopia
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Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles.
Etiology
CH.X: FLNA mutations (filamin A mutations) in Ehlers-Danlos syndrome
5p anomalies (duplication of 5p15.1 or trisomy of 5p15.33 (#12654978#))
- possible cardiac malformations (#12654978#)
- atrial septal defect (secundum)
- mitral and tricuspid valve prolapse)
Williams-Beuren syndrome (7q11.23 deletion at the ELN elastin gene locus) (#15165674#)
Associations
overlying polymicrogyria (#16311271#)
malonyl-CoA decarboxylase deficiency (#16275149#)
ectodermal dysplasia (#12457413#)
thanatophoric dysplasia (#11666020#)
mental retardation (#9710025#)
frontonasal malformation (#9710025#)
sudden death (#12605005#)
References
Battaglia G, Chiapparini L, Franceschetti S, Freri E, Tassi L, Bassanini S, Villani F, Spreafico R, D’Incerti L, Granata T. Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia. 2006 Jan;47(1):86-97. PMID: #16417536#
Battaglia G, Chiapparini L, Franceschetti S, Freri E, Tassi L, Bassanini S, Villani F, Spreafico R, D’Incerti L, Granata T. Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia. 2006 Jan;47(1):86-97. PMID: #16417536#
Clarot F, Vaz E, Papin F, Proust B. Sudden death, epilepsy and cerebral cortical heterotopia. Am J Forensic Med Pathol. 2004 Dec;25(4):362. PMID: #15577532#
Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev. 2004 Aug;26(5):326-34. PMID: #15165674#
Matschke J, Makrigeorgi-Butera M, Stavrou D. Sudden death in a 35-year-old man with occult malformation of the brain and aseptic meningitis. Am J Forensic Med Pathol. 2003 Mar;24(1):83-6. PMID: #12605005#
Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25;60(6):1033-6. PMID: #12654978#
Zannolli R, Conversano E, Serracca L, Di Bartolo RM, Molinelli M, Galluzzi P, Mazzei MA, Terrosi-Vagnoli P, Miracco C, De Santi MM, Vatti G, Coviello G, Malandrini A, Gonnelli S, Alessandrini C, Fimiani M. Cortical periventricular heterotopia with ectodermal dysplasia. Am J Med Genet. 2002 Dec 15;113(4):385-9. PMID: #12457413-#
Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec;21(6):1315-25. PMID: #9883725#