2018
DOI: 10.1002/ana.25188
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Mutations in SCN3A cause early infantile epileptic encephalopathy

Abstract: These findings establish SCN3A as a new gene for infantile epileptic encephalopathy and suggest a potential pharmacologic intervention. These findings also reinforce the role of Nav1.3 as an important regulator of neuronal excitability in the developing brain, while providing additional insight into mechanisms of slow inactivation of Nav1.3. Ann Neurol 2018;83:703-717.

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Cited by 80 publications
(84 citation statements)
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References 59 publications
(137 reference statements)
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“…By comparison, variants in familial SCN disease such as SCN4A periodic paralysis/myotonia or SCN9/10/11A ‐related pain disorders are better tolerated for both truncating and missense variants (Figure ) . Our analysis further supports the emerging evidence that SCN3A , which shows strong depletion for PTV and missense variants, is a good candidate gene for epilepsy, although only a few patients have been reported to date …”
Section: Discussionsupporting
confidence: 80%
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“…By comparison, variants in familial SCN disease such as SCN4A periodic paralysis/myotonia or SCN9/10/11A ‐related pain disorders are better tolerated for both truncating and missense variants (Figure ) . Our analysis further supports the emerging evidence that SCN3A , which shows strong depletion for PTV and missense variants, is a good candidate gene for epilepsy, although only a few patients have been reported to date …”
Section: Discussionsupporting
confidence: 80%
“…Those with early onset seizures (<3 months) due to GoF effects appear to respond well to SCBs, whereas those with later onset epilepsy and NDDs due to LoF variants often remain treatment resistant . There are only limited reports on pathogenic SCN3A variants; however, most of these present within the first days of life due to GoF effects and there is evidence to show that mutant channels may respond to SCBs . Recent case series of patients with SCN8A variants clearly demonstrate how variants associated with NDDs showed LoF effects, whereas those associated with epilepsy showed GoF effects with good response to SCBs …”
Section: Discussionmentioning
confidence: 99%
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