Mulley JC - 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: mulley jc. 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

SCN1A mutations and epilepsy.

Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. Mulley JC, et al. Hum Mutat. 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178. Hum Mutat. 2005. PMID: 15880351 Review.

3

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. Among authors: mulley jc. 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

4

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Among authors: mulley jc. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698

5

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF. Wallace RH, et al. Among authors: mulley jc. Am J Hum Genet. 2001 Apr;68(4):859-65. doi: 10.1086/319516. Epub 2001 Mar 13. Am J Hum Genet. 2001. PMID: 11254444 Free PMC article.

6

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S. Harkin LA, et al. Among authors: mulley jc. Am J Hum Genet. 2002 Feb;70(2):530-6. doi: 10.1086/338710. Epub 2001 Dec 17. Am J Hum Genet. 2002. PMID: 11748509 Free PMC article.

7

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. Among authors: mulley jc. Lancet. 2002 Sep 14;360(9336):851-2. doi: 10.1016/S0140-6736(02)09968-3. Lancet. 2002. PMID: 12243921

8

Channelopathies as a genetic cause of epilepsy.

Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.

9

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. Dibbens LM, et al. Among authors: mulley jc. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. doi: 10.1093/hmg/ddh146. Epub 2004 Apr 28. Hum Mol Genet. 2004. PMID: 15115768

10

Susceptibility genes for complex epilepsy.

Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM. Mulley JC, et al. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. doi: 10.1093/hmg/ddi355. Hum Mol Genet. 2005. PMID: 16244322 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

261 results

Search Page

Filters