Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation
Citation Manager Formats
Make Comment
See Comments
This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Abstract
Background: Autosomal dominant lateral temporal epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the LGI1 gene have been reported in up to 50% of ADLTE pedigrees. We report a family with temporal lobe epilepsy characterized by psychic symptoms associated with a novel LGI1 mutation.
Methods: All participants were personally interviewed and underwent neurologic examination and video-EEG recordings. LGI1 exons were sequenced by standard methods. Mutant cDNA was transfected into human embryonic kidney 293 cells; both cell lysates and media were analyzed by Western blot. In silico modeling of the Lgi1 protein EPTP domain was carried out using the structure of WD repeat protein and manually refined.
Results: Three affected family members were ascertained, 2 of whom had temporal epilepsy with psychic symptoms (déjà vu, fear) but no auditory or aphasic phenomena, while the third had complex partial seizures without any aura. In all patients, we found a novel LGI1 mutation, Arg407Cys, which did not hamper protein secretion in vitro. Mapping of the mutation on a 3-dimensional protein model showed that this mutation does not induce large structural rearrangements but could destabilize interactions of Lgi1 with target proteins.
Conclusions: The Arg407Cys is the first mutation with no effect on Lgi1 protein secretion. The uncommon, isolated psychic symptoms associated with it suggests that ADLTE encompasses a wider range of auras of temporal origin than hitherto reported.
Footnotes
Study funding: Supported by the Genetics Commission of the Italian League Against Epilepsy (grant to C.N. and R.M.) and by a “Progetto di Ateneo” (No. CPDA098382/09) from the University of Padua to S.C.E.T.
-
Supplemental data at www.neurology.org
-
- ADLTE
- autosomal dominant lateral temporal epilepsy
- FMTLE
- familial mesial temporal lobe epilepsy
- LRR
- leucine-rich repeat
- Received August 31, 2010.
- Accepted December 17, 2010.
- Copyright © 2011 by AAN Enterprises, Inc.
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)
Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here
Purchase
Individual access to articles is available through the Add to Cart option on the article page. Access for 1 day (from the computer you are currently using) is US$ 39.00. Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means. The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use. Distributing copies (electronic or otherwise) of the article is not allowed.
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Dr. Dennis Bourdette and Dr. Lindsey Wooliscroft
► Watch
Topics Discussed
Alert Me
Recommended articles
-
Views and Reviews
Encephalitis and antibodies to synaptic and neuronal cell surface proteinsEric Lancaster, Eugenia Martinez-Hernandez, Josep Dalmau et al.Neurology, July 11, 2011 -
Article
Immunoadsorption therapy in autoimmune encephalitidesMüjgan Dogan Onugoren, Kristin S. Golombeck, Corinna Bien et al.Neurology - Neuroimmunology Neuroinflammation, February 26, 2016 -
Articles
Altered language processing in autosomal dominant partial epilepsy with auditory featuresR. Ottman, L. Rosenberger, A. Bagic et al.Neurology, December 08, 2008 -
Clinical/Scientific Notes
STRUCTURAL ANOMALY OF LEFT LATERAL TEMPORAL LOBE IN EPILEPSY DUE TO MUTATED LGI1C. Tessa, R. Michelucci, C. Nobile et al.Neurology, September 17, 2007