Article

Temperature-dependent changes in neuronal dynamics in a patient with an <i>SCN1A</i> mutation and hyperthermia induced seizures

2016-04-13

Abstract excerpt

Dravet syndrome is the prototype of SCN1A -mutation associated epilepsies. It is characterised by prolonged seizures, typically provoked by fever. We describe the evaluation of an SCN1A mutation in a child with early-onset temperature-sensitive seizures. The patient carries a heterozygous miss-sense variant (c3818C>T; pAla1273Val) in the NaV1.1 brain sodium channel. We characterised the functional effects of th...

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Literature Corpus work: 7d8b2da5-32d5-58bb-a9e7-7935ce710c20
DOI: 10.1101/048520

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