Autoimmune channelopathies and related neurological disorders.

Ion channels are crucial elements in neuronal signaling and synaptic transmission, and defects in their function are known to underlie rare genetic disorders, including some forms of epilepsy. A second class of channelopathies, characterized by autoantibodies against ligand- and voltage-gated ion ch...

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Detalhes bibliográficos
Principais autores: Vincent, A, Lang, B, Kleopa, K
Formato: Journal article
Idioma:English
Publicado em: 2006
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author Vincent, A
Lang, B
Kleopa, K
author_facet Vincent, A
Lang, B
Kleopa, K
author_sort Vincent, A
collection OXFORD
description Ion channels are crucial elements in neuronal signaling and synaptic transmission, and defects in their function are known to underlie rare genetic disorders, including some forms of epilepsy. A second class of channelopathies, characterized by autoantibodies against ligand- and voltage-gated ion channels, cause a variety of defects in peripheral neuromuscular and ganglionic transmission. There is also emerging evidence for autoantibody-mediated mechanisms in subgroups of patients with central nervous system disorders, particularly those involving defects in cognition or sleep and often associated with epilepsy. In all autoimmune channelopathies, the relationship between autoantibody specificity and clinical phenotype is complex. But with this new information, autoimmune channelopathies are detected and treated with increasing success, and future research promises new insights into the mechanisms of dysfunction at neuronal synapses and the determinants of clinical phenotype.
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spelling oxford-uuid:fe7de363-57d6-4cd9-ae1f-675074b3f13f2022-03-27T13:36:57ZAutoimmune channelopathies and related neurological disorders.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:fe7de363-57d6-4cd9-ae1f-675074b3f13fEnglishSymplectic Elements at Oxford2006Vincent, ALang, BKleopa, KIon channels are crucial elements in neuronal signaling and synaptic transmission, and defects in their function are known to underlie rare genetic disorders, including some forms of epilepsy. A second class of channelopathies, characterized by autoantibodies against ligand- and voltage-gated ion channels, cause a variety of defects in peripheral neuromuscular and ganglionic transmission. There is also emerging evidence for autoantibody-mediated mechanisms in subgroups of patients with central nervous system disorders, particularly those involving defects in cognition or sleep and often associated with epilepsy. In all autoimmune channelopathies, the relationship between autoantibody specificity and clinical phenotype is complex. But with this new information, autoimmune channelopathies are detected and treated with increasing success, and future research promises new insights into the mechanisms of dysfunction at neuronal synapses and the determinants of clinical phenotype.
spellingShingle Vincent, A
Lang, B
Kleopa, K
Autoimmune channelopathies and related neurological disorders.
title Autoimmune channelopathies and related neurological disorders.
title_full Autoimmune channelopathies and related neurological disorders.
title_fullStr Autoimmune channelopathies and related neurological disorders.
title_full_unstemmed Autoimmune channelopathies and related neurological disorders.
title_short Autoimmune channelopathies and related neurological disorders.
title_sort autoimmune channelopathies and related neurological disorders
work_keys_str_mv AT vincenta autoimmunechannelopathiesandrelatedneurologicaldisorders
AT langb autoimmunechannelopathiesandrelatedneurologicaldisorders
AT kleopak autoimmunechannelopathiesandrelatedneurologicaldisorders