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 CME: Take the course for this article:
 Volume 60, Number 2, January 28, 2003
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
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 Aigner, L.
Right arrow Articles by Winkler, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Aigner, L.
Right arrow Articles by Winkler, J.
Related Collections
Right arrow All Imaging
Right arrow MRI
Right arrow All Pediatric
Right arrow Developmental disorders
Right arrow Cortical dysplasia
Right arrow All Genetics

Neurology 2003;60:329-332
© 2003 American Academy of Neurology
Brief Communications

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

L. Aigner, PhD*, G. Uyanik, MD*, S. Couillard-Despres, PhD*, S. Ploetz*, G. Wolff, MD, D. Morris-Rosendahl, PhD, P. Martin, MD, U. Eckel, MD, S. Spranger, MD, J. Otte, MD, H. Woerle, MD, H. Holthausen, MD, N. Apheshiotis, MD, D. Fluegel, MD and J. Winkler, MD

*These authors contributed equally to the work.
From the Department of Neurology (Drs. Aigner, Uyanik, Couillard-Despres, Fluegel, and Winkler, and S. Ploetz) and Volkswagen-Foundation Junior Group (Drs. Aigner and Couillard-Despres, and S. Ploetz), University of Regensburg; Institute of Human Genetics and Anthropology (Drs. Wolff and Morris-Rosendahl), University of Freiburg; Epilepsy Center Kork (Dr. Martin), Kehl-Kork; private practice (neuropediatrician) (Dr. Eckel), Osterholz-Scharmbeck; private practice (human geneticist) (Dr. Spranger), Bremen; Epilepsy Center Bethel (Dr. Otte), Bielefeld; Pediatric Center (Dr. Woerle), Olgahospital, Stuttgart; Neuropediatric Center Vogtareuth (Dr. Holthausen); and Clinic for Human Genetics (Dr. Apheshiotis), Braunschweig, Germany.

Address correspondence and reprint requests to Dr. J. Winkler, Department of Neurology, University of Regensburg, Universitätsstr. 84, D-93053 Regensburg, Germany; e-mail: juergen.winkler{at}klinik.uni-regensburg.de

X-linked isolated lissencephaly sequence (XLIS) and subcortical band heterotopia (SBH) are allelic disorders caused by mutations in the doublecortin (DCX) gene. This genetic analysis of seven families revealed four novel mutations in the DCX gene. The authors detected a high rate of somatic mosaicism in male and female patients with variable penetrance of bilateral SBH including nonpenetrance in a heterozygous woman. In addition, the authors implemented prenatal diagnosis in a family with SBH/XLIS.




This article has been cited by other articles:


Home page
 J. Neurosci.Home page
A. Lagares, H.-Y. Li, X.-F. Zhou, and C. Avendano
Primary Sensory Neuron Addition in the Adult Rat Trigeminal Ganglion: Evidence for Neural Crest Glio-Neuronal Precursor Maturation
J. Neurosci., July 25, 2007; 27(30): 7939 - 7953.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
F. Sicca, A. Kelemen, P. Genton, S. Das, D. Mei, F. Moro, W.B. Dobyns, and R. Guerrini
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
Neurology, October 28, 2003; 61(8): 1042 - 1046.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by AAN Enterprises, Inc.