Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: A casual or causal association?

Laura Licchetta, Francesca Bisulli, Ilaria Naldi, Greta Mainieri, Paolo Tinuper

Research output: Contribution to journalArticlepeer-review


The association between hereditary myotonic disorders and epilepsyisseldom describedinthe literature.Todate,fewreportshave 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 twogeneration 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 GABAA inhibitory signalling, cannot be ruled out as a possible influence.

Original languageEnglish
Pages (from-to)362-365
Number of pages4
JournalEpileptic Disorders
Issue number3
Publication statusPublished - Sep 1 2014


  • Chloride channels
  • Limbic encephalitis
  • Seizures
  • Thomsen myotonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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