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.
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Authors | Laura Licchetta, Francesca Bisulli, Ilaria Naldi, Greta Mainieri, Paolo Tinuper |
Journal | Epileptic disorders : international epilepsy journal with videotape
(Epileptic Disord)
Vol. 16
Issue 3
Pg. 362-5
(Sep 2014)
ISSN: 1294-9361 [Print] France |
PMID | 25036107
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- CLC-1 channel
- Chloride Channels
- Glutamate Decarboxylase
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Topics |
- Adolescent
- Chloride Channels
(genetics)
- Glutamate Decarboxylase
(genetics, immunology)
- Humans
- Limbic Encephalitis
(complications, genetics, immunology)
- Male
- Mutation
- Myotonia Congenita
(complications, genetics, immunology)
- Pedigree
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