Limbic encephalitis with anti‐GAD antibodies and Thomsen myotonia: a casual or causal association?. Issue 3 (September 2014)

• Record Type: Journal Article
• Authors: Licchetta, Laura; Bisulli, Francesca; Naldi, Ilaria; Mainieri, Greta; Tinuper, Paolo
• Is Part Of: Epileptic disorders. Volume 16:Issue 3(2014:Sep.)
• Page Start: 362
• Page End: 365
• Publication Date: 2014-09
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2014.0668
• Languages: English
• ISSNs: 1294-9361

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The association between hereditary myotonic disorders and epilepsy is seldom described in the literature. To date, few reports have dealt with dystrophic myotonias, whereas a single case demonstrating an association between sporadic congenital myotonia and epilepsy was recently reported in a patient carrying a <italic>de novo</italic> mutation of the <italic>CLCN1</italic> gene. Additional evidence for a role of <italic>CLCN1</italic> in the pathogenesis of epilepsy is derived from large‐scale exome analysis of ion channel variants and expression studies. Here, we describe the first case of association between familial Thomsen myotonia and epilepsy. All the affected members of a two‐generation family presented myotonia and disclosed a pathogenic mutation in <italic>CLCN1</italic>. In addition, one individual experienced epileptic seizures due to limbic encephalitis (LE) with anti‐GAD antibodies. The occurrence of the two diseases in this patient could be a chance association, however, <italic>CLCN1</italic> mutation, as a susceptibility factor for epilepsy through dysfunction of GABA_<sc>a</sc> inhibitory signalling, cannot be ruled out as a possible influence.</p> </abstract>