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 Hayman, M.
Right arrow Articles by Berkovic, S. F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hayman, M.
Right arrow Articles by Berkovic, S. F.
NEUROLOGY 1997;49:969-975
© 1997 American Academy of Neurology

Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation

M. Hayman, MB, BS, FRACP, I. E. Scheffer, MB, BS, FRACP, Y. Chinvarun, MD, S. U. Berlangieri, MB, BS, FRACP and S. F. Berkovic, MD, FRACP

From the Departments of Neurology (Drs. Hayman, Scheffer, Chinvarun, and Berkovic) and Nuclear Medicine (Dr. Berlangieri), Austin and Repatriation Medical Centre, Heidelberg (Melbourne), Victoria, Australia; the Department of Neurology (Drs. Hayman, Scheffer, and Berkovic), Royal Children's Hospital, Melbourne, Australia; the Department of Neurology (Drs. Hayman and Scheffer), Monash Medical Centre, Melbourne, Australia; and the Department of Medicine(Neurology) (Drs. Scheffer and Berkovic), University of Melbourne, Australia.

Address correspondence and reprint requests to Dr. Samuel F. Berkovic, Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg(Melbourne), Victoria 3084, Australia.

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a newly recognized autosomal dominant partial epilepsy. We studied seizure localization and intrafamilial variation using video-EEG monitoring (VEM) and functional neuroimaging in two pairs of subjects from unrelated families. The clinical features of seizures were similar from seizure to seizure in each individual, but varied between individuals. As is often found in frontal lobe epilepsies, ictal EEG localization was imprecise in three of four cases. One patient showed a consistent left fronto-polar onset that was corroborated by congruent focal hypometabolism on interictal PET and focal hyperperfusion on ictal single photon emission computed tomography (SPECT). A second case studied with ictal SPECT showed a right parasagittal, midfrontal focus. We conclude that this autosomal dominant epilepsy syndrome, which in one of the two families was due to a known neuronal nicotinic acetylcholine receptor mutation, causes frontal lobe foci that are unilateral and in variable locations in different individuals.

Supported by the National Health and Medical Research Council of Australia and the Royal Children's Hospital Medical Research Foundation.

Received January 23, 1997. Accepted in final form May 13, 1997.




This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
I. Manfredi, A. D. Zani, L. Rampoldi, S. Pegorini, I. Bernascone, M. Moretti, C. Gotti, L. Croci, G. G. Consalez, L. Ferini-Strambi, et al.
Expression of mutant {beta}2 nicotinic receptors during development is crucial for epileptogenesis
Hum. Mol. Genet., March 15, 2009; 18(6): 1075 - 1088.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
Y. Teper, D. Whyte, E. Cahir, H. A. Lester, S. R. Grady, M. J. Marks, B. N. Cohen, C. Fonck, T. McClure-Begley, J. M. McIntosh, et al.
Nicotine-Induced Dystonic Arousal Complex in a Mouse Line Harboring a Human Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy Mutation
J. Neurosci., September 19, 2007; 27(38): 10128 - 10142.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
Y.-W. Cho, G. K. Motamedi, I. Laufenberg, S.-I. Sohn, J.-G. Lim, H. Lee, S.-D. Yi, J.-H. Lee, D.-K. Kim, R. Reba, et al.
A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation
Arch Neurol, November 1, 2003; 60(11): 1625 - 1632.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
F. Picard, S. Baulac, P. Kahane, E. Hirsch, R. Sebastianelli, P. Thomas, F. Vigevano, P. Genton, R. Guerrini, C. A. Gericke, et al.
Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families
Brain, June 1, 2000; 123(6): 1247 - 1262.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
S. Hirose, H. Iwata, H. Akiyoshi, K. Kobayashi, M. Ito, K. Wada, S. Kaneko, and A. Mitsudome
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
Neurology, November 1, 1999; 53(8): 1749 - 1749.
[Abstract] [Full Text] [PDF]

Home page
 NeuroscientistHome page
O. K. Steinlein
REVIEW {blacksquare} : The Genetic Basis of Epilepsy: Mutant Alleles of Ligand- and Voltage-Gated Ion Channels
Neuroscientist, September 1, 1999; 5(5): 295 - 301.
[Abstract] [PDF]

Home page
 Arch NeurolHome page
A. Saenz, J. Galan, C. Caloustian, F. Lorenzo, C. Marquez, N. Rodriguez, M. D. Jimenez, J. J. Poza, A. M. Cobo, D. Grid, et al.
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene
Arch Neurol, August 1, 1999; 56(8): 1004 - 1009.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1997 by AAN Enterprises, Inc.