Periventricular heterotopia associated with chromosome 5p anomalies

V. L. Sheen, James Wheless, A. Bodell, E. Braverman, P. D. Cotter, K. A. Rauen, O. Glenn, K. Weisiger, S. Packman, Christopher A. Walsh, E. H. Sherr

Research output: Contribution to journalArticle

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Abstract

Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of 5p15.1 [46,XX,dup(5)(p15.1p15.1)] and a trisomy of 5p15.33 [46,XY,der(14)t(5; 14)(p15.33;p11.2) mat]. These findings suggest a new PH locus along the telomeric end of chromosome 5p.

Original languageEnglish (US)
Pages (from-to)1033-1036
Number of pages4
JournalNeurology
Volume60
Issue number6
DOIs
StatePublished - Mar 25 2003

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Periventricular Nodular Heterotopia
Chromosomes
Gliosis
Lateral Ventricles
Trisomy
Seizures
Mutation
Heterotopia, Periventricular, associated with Chromosome 5p Anomalies

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Sheen, V. L., Wheless, J., Bodell, A., Braverman, E., Cotter, P. D., Rauen, K. A., ... Sherr, E. H. (2003). Periventricular heterotopia associated with chromosome 5p anomalies. Neurology, 60(6), 1033-1036. https://doi.org/10.1212/01.WNL.0000052689.03214.61

Periventricular heterotopia associated with chromosome 5p anomalies. / Sheen, V. L.; Wheless, James; Bodell, A.; Braverman, E.; Cotter, P. D.; Rauen, K. A.; Glenn, O.; Weisiger, K.; Packman, S.; Walsh, Christopher A.; Sherr, E. H.

In: Neurology, Vol. 60, No. 6, 25.03.2003, p. 1033-1036.

Research output: Contribution to journalArticle

Sheen, VL, Wheless, J, Bodell, A, Braverman, E, Cotter, PD, Rauen, KA, Glenn, O, Weisiger, K, Packman, S, Walsh, CA & Sherr, EH 2003, 'Periventricular heterotopia associated with chromosome 5p anomalies', Neurology, vol. 60, no. 6, pp. 1033-1036. https://doi.org/10.1212/01.WNL.0000052689.03214.61
Sheen VL, Wheless J, Bodell A, Braverman E, Cotter PD, Rauen KA et al. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25;60(6):1033-1036. https://doi.org/10.1212/01.WNL.0000052689.03214.61
Sheen, V. L. ; Wheless, James ; Bodell, A. ; Braverman, E. ; Cotter, P. D. ; Rauen, K. A. ; Glenn, O. ; Weisiger, K. ; Packman, S. ; Walsh, Christopher A. ; Sherr, E. H. / Periventricular heterotopia associated with chromosome 5p anomalies. In: Neurology. 2003 ; Vol. 60, No. 6. pp. 1033-1036.
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AU - Wheless, James

AU - Bodell, A.

AU - Braverman, E.

AU - Cotter, P. D.

AU - Rauen, K. A.

AU - Glenn, O.

AU - Weisiger, K.

AU - Packman, S.

AU - Walsh, Christopher A.

AU - Sherr, E. H.

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AB - Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of 5p15.1 [46,XX,dup(5)(p15.1p15.1)] and a trisomy of 5p15.33 [46,XY,der(14)t(5; 14)(p15.33;p11.2) mat]. These findings suggest a new PH locus along the telomeric end of chromosome 5p.

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