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 Data Supplement
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 Wallace, R. H.
Right arrow Articles by Scheffer, I. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Wallace, R. H.
Right arrow Articles by Scheffer, I. E.
Related Collections
Right arrow Myoclonus
Right arrow All Epilepsy/Seizures
Right arrow Infantile spasms
Right arrow Ion channel gene defects

Neurology 2003;61:765-769
© 2003 American Academy of Neurology

Sodium channel {alpha}1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

R. H. Wallace, PhD, B. L. Hodgson, Dip Biomed Sci, B. E. Grinton, BSc Hons, R. M. Gardiner, MD, R. Robinson, MD, V. Rodriguez–Casero, MD, L. Sadleir, MB, J. Morgan, MD, L. A. Harkin, MSc, L. M. Dibbens, PhD, T. Yamamoto, MD PhD, E. Andermann, MD, J. C. Mulley, PhD, S. F. Berkovic, MD and I. E. Scheffer, MBBS PhD

From the Centre for Medical Genetics (Drs. Wallace, Hodgson, Dibbens, Yamamoto, and Mulley, L.A. Harkin, B.L. Hodgson), Department of Laboratory Genetics, Women’s and Children’s Hospital, North Adelaide, and Departments of Molecular Biosciences (Dr. Mulley) and Pediatrics (Drs. Dibbens and Wallace, L.A. Harkin), University of Adelaide, South Australia, Department of Medicine (Neurology) (Drs. Berkovic and Scheffer, B.E. Grinton), University of Melbourne, Austin and Repatriation Medical Center, Heidelberg, Department of Neurology (Dr. Rodriguez–Casero and Scheffer), Royal Children’s Hospital, Parkville, and Department of Neurosciences (Dr. Scheffer), Monash Medical Center, Clayton, Australia; Department of Pediatrics and Child Health (Dr. Gardiner and Robinson), Royal Free and University College, London, England; Royal Glamorgan Hospital (Dr. Morgan), Llantrisant, Wales; Department of Pediatrics (Dr. Sadleir), Wellington School of Medicine, University of Otago, Wellington, New Zealand; and Neurogenetics Unit (Dr. Andermann), Montreal Neurological Institute and Hospital, Quebec, Canada.

Address correspondence and reprint requests to Dr. I. Scheffer, Epilepsy Research Institute, Repatriation Campus, Austin and Repatriation Medical Center, Locked Bag 1, West Heidelberg, Victoria 3081, Australia; e-mail: scheffer{at}unimelb.edu.au

Background: Mutations in SCN1A, the gene encoding the {alpha}1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). Mutations in SMEI include missense, nonsense, and frameshift mutations more commonly arising de novo in affected patients. This finding is difficult to reconcile with the family history of GEFS+ in a significant proportion of patients with SMEI. Infantile spasms (IS), or West syndrome, is a severe epileptic encephalopathy that is usually symptomatic. In some cases, no etiology is found and there is a family history of epilepsy.

Method: The authors screened SCN1A in 24 patients with SMEI and 23 with IS.

Results: Mutations were found in 8 of 24 (33%) SMEI patients, a frequency much lower than initial reports from Europe and Japan. One mutation near the carboxy terminus was identified in an IS patient. A family history of seizures was found in 17 of 24 patients with SMEI.

Conclusions: The rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI. Less severe mutations associated with GEFS+ could interact with other loci to cause SMEI in cases with a family history of GEFS+. This study extends the phenotypic heterogeneity of mutations in SCN1A to include IS.




This article has been cited by other articles:


Home page
 Arch NeurolHome page
C. Zucca, F. Redaelli, R. Epifanio, N. Zanotta, A. Romeo, M. Lodi, P. Veggiotti, G. Airoldi, C. Panzeri, R. Romaniello, et al.
Cryptogenic Epileptic Syndromes Related to SCN1A: Twelve Novel Mutations Identified
Arch Neurol, April 1, 2008; 65(4): 489 - 494.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
E. C. Cooper and Z. Pan
Putting an end to DEND: A severe neonatal-onset epilepsy is treatable if recognized early
Neurology, September 25, 2007; 69(13): 1310 - 1311.
[Full Text] [PDF]

Home page
 BrainHome page
L. A. Harkin, J. M. McMahon, X. Iona, L. Dibbens, J. T. Pelekanos, S. M. Zuberi, L. G. Sadleir, E. Andermann, D. Gill, K. Farrell, et al.
The spectrum of SCN1A-related infantile epileptic encephalopathies
Brain, March 1, 2007; 130(3): 843 - 852.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
C. Korff, L. Laux, K. Kelley, J. Goldstein, S. Koh, and D. Nordli Jr
Dravet Syndrome (Severe Myoclonic Epilepsy in Infancy): A Retrospective Study of 16 Patients
J Child Neurol, February 1, 2007; 22(2): 185 - 194.
[Abstract] [PDF]

Home page
 BrainHome page
I. E. Scheffer, L. A. Harkin, B. E. Grinton, L. M. Dibbens, S. J. Turner, M. A. Zielinski, R. Xu, G. Jackson, J. Adams, M. Connellan, et al.
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
Brain, January 1, 2007; 130(1): 100 - 109.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
H L Archer, J Evans, S Edwards, J Colley, R Newbury-Ecob, F O'Callaghan, M Huyton, M O'Regan, J Tolmie, J Sampson, et al.
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
J. Med. Genet., September 1, 2006; 43(9): 729 - 734.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M M Trudeau, J C Dalton, J W Day, L P W Ranum, and M H Meisler
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation
J. Med. Genet., June 1, 2006; 43(6): 527 - 530.
[Abstract] [Full Text] [PDF]

Home page
 QJMHome page
T.D. Graves
Ion channels and epilepsy
QJM, April 1, 2006; 99(4): 201 - 217.
[Full Text] [PDF]

Home page
 J. Neurosci.Home page
A. J. Barela, S. P. Waddy, J. G. Lickfett, J. Hunter, A. Anido, S. L. Helmers, A. L. Goldin, and A. Escayg
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
J. Neurosci., March 8, 2006; 26(10): 2714 - 2723.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
J. Spampanato, J. A. Kearney, G. de Haan, D. P. McEwen, A. Escayg, I. Aradi, B. T. MacDonald, S. I. Levin, I. Soltesz, P. Benna, et al.
A Novel Epilepsy Mutation in the Sodium Channel SCN1A Identifies a Cytoplasmic Domain for {beta} Subunit Interaction
J. Neurosci., November 3, 2004; 24(44): 10022 - 10034.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
K. Kanai, S. Hirose, H. Oguni, G. Fukuma, Y. Shirasaka, T. Miyajima, K. Wada, H. Iwasa, S. Yasumoto, M. Matsuo, et al.
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
Neurology, July 27, 2004; 63(2): 329 - 334.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurophysiol.Home page
J. Spampanato, I. Aradi, I. Soltesz, and A. L. Goldin
Increased Neuronal Firing in Computer Simulations of Sodium Channel Mutations That Cause Generalized Epilepsy With Febrile Seizures Plus
J Neurophysiol, May 1, 2004; 91(5): 2040 - 2050.
[Abstract] [Full Text] [PDF]


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