John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? Volume 16, numéro 3, September 2014


  • Figure 1
1 IRCCS Istituto delle Scienze Neurologiche di Bologna
2 Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy
* Correspondence: Laura Licchetta IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bellaria Hospital, Via Altura, 3-40139 Bologna, Italy
  • Mots-clés : Thomsen myotonia, seizures, chloride channels, limbic encephalitis
  • DOI : 10.1684/epd.2014.0668
  • Page(s) : 362-5
  • Année de parution : 2014

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 de novo mutation of the CLCN1 gene. Additional evidence for a role of CLCN1 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 CLCN1. 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, CLCN1 mutation, as a susceptibility factor for epilepsy through dysfunction of GABAainhibitory signalling, cannot be ruled out as a possible influence.