Conference Proceedings
AXONAL EXCITABILITY PROPERTIES IN DRAVET'S SYNDROME REFLECT EFFECT OF LOSS OF SODIUM CHANNELS
Michelle A Farrar, Susan E Tomlinson, James Howells, Cindy Shin-Yi Lin, Kate Carey, Susanna B Park, Georgina Hollingsworth, John A Lawson, Matthew C Kiernan, Sam F Berkovic, David Burke, Ingrid E Scheffer
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | BMJ PUBLISHING GROUP | Published : 2019
Abstract
IntroductionMutations in SCN1A encoding the Nav1.1 subunit of the neuronal sodium channel underlie the devastating epilepsy of Dravet’s syndrome.1 The mechanism by which Nav1.1 dysfunction causes seizures is not clear. In vitro and in silico channel evaluation can support mutation pathogenicity but cannot define the in vivo impact of channel dysfunction. Axonal excitability studies can show the pattern of single-channel dysfunction in disorders where the channel is peripherally expressed.2 This study was undertaken to determine whether axonal excitability studies could detect changes in Dravet’s patients related to the condition or due to medication effect.MethodsPatients with Dravet’s syndr..
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