| Literature DB >> 16832093 |
A Sirén1, B Legros, L Chahine, J-P Misson, M Pandolfo.
Abstract
Autosomal recessive hyperekplexia is due to loss-of-function mutations in the GLRA1 gene. The authors describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder effect in Kurds from Turkey. Hyperekplexia may be misdiagnosed as epilepsy.Entities:
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Year: 2006 PMID： 16832093 DOI： 10.1212/01.wnl.0000223347.73493.af
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910