Heron SE - Search Results

1

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

Richards MC, Heron SE, Spendlove HE, Scheffer IE, Grinton B, Berkovic SF, Mulley JC, Davy A. Richards MC, et al. Among authors: heron se. J Med Genet. 2004 Mar;41(3):e35. doi: 10.1136/jmg.2003.013938. J Med Genet. 2004. PMID: 14985406 Free PMC article. No abstract available.

2

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC. Heron SE, et al. J Med Genet. 2010 Feb;47(2):137-41. doi: 10.1136/jmg.2008.065912. Epub 2009 Jul 8. J Med Genet. 2010. PMID: 19589774

3

Sodium-channel defects in benign familial neonatal-infantile seizures.

Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Heron SE, et al. Lancet. 2002 Sep 14;360(9336):851-2. doi: 10.1016/S0140-6736(02)09968-3. Lancet. 2002. PMID: 12243921

4

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF. Herlenius E, et al. Among authors: heron se. Epilepsia. 2007 Jun;48(6):1138-42. doi: 10.1111/j.1528-1167.2007.01049.x. Epub 2007 Mar 26. Epilepsia. 2007. PMID: 17386050 Free article.

5

Channelopathies in idiopathic epilepsy.

Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC. Heron SE, et al. Neurotherapeutics. 2007 Apr;4(2):295-304. doi: 10.1016/j.nurt.2007.01.009. Neurotherapeutics. 2007. PMID: 17395140 Free article. Review.

6

Association studies and functional validation or functional validation alone?

Heron SE, Sanchez L, Scheffer IE, Berkovic SF, Mulley JC. Heron SE, et al. Epilepsy Res. 2007 May;74(2-3):237-8. doi: 10.1016/j.eplepsyres.2007.03.003. Epub 2007 Apr 11. Epilepsy Res. 2007. PMID: 17433625 No abstract available.

7

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW. Heron SE, et al. Ann Neurol. 2007 Dec;62(6):560-8. doi: 10.1002/ana.21169. Ann Neurol. 2007. PMID: 17696120

8

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

Heron SE, Hernandez M, Edwards C, Edkins E, Jansen FE, Scheffer IE, Berkovic SF, Mulley JC. Heron SE, et al. Epilepsia. 2010 Feb;51(2):293-6. doi: 10.1111/j.1528-1167.2009.02317.x. Epub 2009 Oct 27. Epilepsia. 2010. PMID: 19863579 Free article.

9

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC. Heron SE, et al. Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x. Epilepsia. 2010. PMID: 20384724 Free article.

10

Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.

Mulley JC, Heron SE, Dibbens LM. Mulley JC, et al. Among authors: heron se. Epilepsia. 2011 Mar;52(3):649-50. doi: 10.1111/j.1528-1167.2010.02953.x. Epilepsia. 2011. PMID: 21395569 Free article. No abstract available.

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