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The voltage-gated channelopathies as a paradigm for studying epilepsy-causing genes

Carpenter, JC; Schorge, S; (2018) The voltage-gated channelopathies as a paradigm for studying epilepsy-causing genes. Current Opinion in Physiology , 2 pp. 71-76. 10.1016/j.cophys.2018.01.004. Green open access

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Abstract

‘Channelopathies’, or mutations in ion channels, are long-established causes of epilepsy. Comprehensive genetic, mechanistic and clinical data for SCN1A, a voltage-gated sodium channel, has highlighted the differing contributions of neuronal sub-types in epilepsy and confirmed that genotype-phenotype relations, even for monogenic epilepsies, are strongly influenced by modifier genes and environmental factors. An emerging population of de novo mutations in voltage-gated potassium channels has defined two novel potassium channelopathies (KCNA2 and KCNC1), which may benefit from mechanistic insights from SCN1A. Meanwhile, increasing genetic evidence has strengthened the long-standing association of voltage-gated calcium channels with epilepsy. Finally, an integrative approach for the characterisation of genetic variation in NMDA receptors has created a new standard for predicting functional effects of novel epilepsy genes.

Type: Article
Title: The voltage-gated channelopathies as a paradigm for studying epilepsy-causing genes
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.cophys.2018.01.004
Publisher version: https://doi.org/10.1016/j.cophys.2018.01.004
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy > Pharmacology
URI: https://discovery.ucl.ac.uk/id/eprint/10057592
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