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Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects

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Published in Molecular Syndromology. 2016, vol. 7, no. 4, p. 197-209
Abstract 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.
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PMID: 27781030
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Article (Published version) (349 Kb) - document accessible for UNIGE members only Limited access to UNIGE
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Research group Epilepsie et Chirurgie (149)
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LASCANO, Agustina Maria, KORFF, Christian, PICARD, Fabienne. Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects. In: Molecular Syndromology, 2016, vol. 7, n° 4, p. 197-209. https://archive-ouverte.unige.ch/unige:88754

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Deposited on : 2016-11-09

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