Adelaide Research & Scholarship
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https://hdl.handle.net/2440/24064
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| Type: | Journal article |
| Title: | A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A |
| Author: | Mulley, J. Nelson, P. Guerrero, S. Dibbens, L. Iona, X. McMahon, J. Harkin, L. Schouten, J. Yu, S. Berkovic, S. Scheffer, I. |
| Citation: | Neurology, 2006; 67(6):1094-1095 |
| Publisher: | Lippincott Williams & Wilkins |
| Issue Date: | 2006 |
| ISSN: | 0028-3878 1526-632X |
| Statement of Responsibility: | Mulley, J C ; Nelson, P ; Guerrero, S ; Dibbens, L ; Iona, X ; Mcmahon, J M ; Harkin, L ; Schouten, J ; Yu, S ; Berkovic, S F ; Scheffer, I E |
| Abstract: | We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A. |
| Keywords: | Humans Epilepsies, Myoclonic Sodium Channels Nerve Tissue Proteins Cohort Studies DNA Mutational Analysis Gene Deletion Exons NAV1.1 Voltage-Gated Sodium Channel |
| Description: | Copyright © 2006 American Academy of Neurology |
| DOI: | 10.1212/01.wnl.0000237322.04338.2b |
| Description (link): | http://www.neurology.org/cgi/content/abstract/67/6/1094 |
| Published version: | http://dx.doi.org/10.1212/01.wnl.0000237322.04338.2b |
| Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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