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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2000 1
2001 2
2002 1
2005 3
2006 14
2007 16
2008 8
2009 11
2010 9
2011 10
2012 12
2013 8
2014 12
2015 13
2016 11
2017 12
2018 11
2019 16
2020 3
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Page 1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Marini C, et al. Brain 2018. Among authors: Depienne C. PMID 30351409 Free article.
Of the 18 novel pathogenic missense variants identified, 12 were associated with severe phenotypes and clustered within or close to transmembrane domains, while variants segregating with milder phenotypes were located outside transmembrane domains, in the intracellular N- and C-terminal parts of the channel. ...
Of the 18 novel pathogenic missense variants identified, 12 were associated with severe phenotypes and clustered within or close to transmem …
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