Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects.
- Lascano AM EEG and Epilepsy Exploration Unit, University Hospitals Geneva, Geneva, Switzerland.
- Korff CM Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals Geneva, Geneva, Switzerland.
- Picard F EEG and Epilepsy Exploration Unit, University Hospitals Geneva, Geneva, Switzerland.
- 2016-10-27
Published in:
- Molecular syndromology. - 2016
English
Despite intensive research activity leading to many important discoveries, the pathophysiological mechanisms underlying seizures and epilepsy remain poorly understood. An important number of specific gene defects have been related to various forms of epilepsies, and autoimmunity and epilepsy have been associated for a long time. Certain central nervous system proteins have been involved in epilepsy or acute neurological diseases with seizures either due to underlying gene defects or immune dysfunction. Here, we focus on 2 of them that have been the object of particular attention and in-depth research over the past years: the N-methyl-D-aspartate receptor and the leucin-rich glioma-inactivated protein 1 (LGI1). We also describe illustrative examples of situations in which genetics and immunology meet in the complex pathways that underlie seizures and epilepsy.
- Language
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- English
- Open access status
- bronze
- Identifiers
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- DOI 10.1159/000447707
- PMID 27781030
- Persistent URL
- https://fredi.hepvs.ch/global/documents/116678
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