Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Poolos, N. P.
Right arrow Articles by Dobyns, W. B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Poolos, N. P.
Right arrow Articles by Dobyns, W. B.
Related Collections
Right arrow MRI
Right arrow All Epilepsy/Seizures
Right arrow Cortical dysplasia
Right arrow All Genetics

Neurology 2002;58:1559-1562
© 2002 American Academy of Neurology
Brief Communications

Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX

N. P. Poolos, MD PhD, S. Das, PhD, G. D. Clark, MD, D. Lardizabal, MD, J. L. Noebels, MD PhD, E. Wyllie, MD and W. B. Dobyns, MD

From the Department of Neurology and Division of Neuroscience (Drs. Poolos, Clark, and Noebels), and Department of Pediatrics (Dr. Clark), Baylor College of Medicine, Houston, TX; Department of Human Genetics (Drs. Das and Dobyns), University of Chicago, IL; and Department of Neurology (Drs. Lardizabal and Wyllie), Cleveland Clinic Foundation, OH.

Address correspondence and reprint requests to Nicholas P. Poolos, MD, PhD, Dept. of Neurology, Harborview Medical Center, Box 359745, University of Washington, Seattle, WA 98104; e-mail: npoolos{at}u.washington.edu

Subcortical band heterotopia (SBH) is seen predominantly in females, resulting from mutations in the X-linked doublecortin (DCX) gene, and can present with mild mental retardation and epilepsy. Males carrying DCX mutations usually demonstrate lissencephaly and are clinically much more severely affected. This article reports two cases of males with SBH indistinguishable from the female phenotype, both resulting from somatic mosaicism for DCX mutation.




This article has been cited by other articles:


Home page
 BrainHome page
C. Fallet-Bianco, L. Loeuillet, K. Poirier, P. Loget, F. Chapon, L. Pasquier, Y. Saillour, C. Beldjord, J. Chelly, and F. Francis
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A
Brain, September 1, 2008; 131(9): 2304 - 2320.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. D. D'Agostino, A. Bastos, C. Piras, A. Bernasconi, T. Grisar, V. G. Tsur, J. Snipes, C. Juhasz, H. Chugani, R. Guerrini, et al.
Posterior quadrantic dysplasia or hemi-hemimegalencephaly: A characteristic brain malformation
Neurology, June 22, 2004; 62(12): 2214 - 2220.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Kato and W. B. Dobyns
Lissencephaly and the molecular basis of neuronal migration
Hum. Mol. Genet., April 2, 2003; 12(90001): R89 - 96.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
J. G. Gleeson
Another double trouble: Silent carriers of doublecortin mutations
Neurology, January 28, 2003; 60(2): 164 - 165.
[Full Text] [PDF]

Home page
 BrainHome page
M. D. D'Agostino, A. Bernasconi, S. Das, A. Bastos, R. M. Valerio, A. Palmini, J. Costa da Costa, I. E. Scheffer, S. Berkovic, R. Guerrini, et al.
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
Brain, November 1, 2002; 125(11): 2507 - 2522.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by AAN Enterprises, Inc.