Referenced in: none

Automatically associated channels: ClC1 , ClC4

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

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

Journal, date & volume: Epileptic Disord, 2014 Sep , 16, 362-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25036107

Abstract
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 GABAA inhibitory signalling, cannot be ruled out as a possible influence.