Mulley JC - Search Results

1

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

Xu R, Thomas EA, Jenkins M, Gazina EV, Chiu C, Heron SE, Mulley JC, Scheffer IE, Berkovic SF, Petrou S. Xu R, et al. Among authors: mulley jc. Mol Cell Neurosci. 2007 Jun;35(2):292-301. doi: 10.1016/j.mcn.2007.03.003. Epub 2007 Mar 13. Mol Cell Neurosci. 2007. PMID: 17467289

2

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Berkovic SF, et al. Among authors: mulley jc. Ann Neurol. 2004 Apr;55(4):550-7. doi: 10.1002/ana.20029. Ann Neurol. 2004. PMID: 15048894

3

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S. Xu R, et al. Among authors: mulley jc. Neuroscience. 2007 Aug 10;148(1):164-74. doi: 10.1016/j.neuroscience.2007.05.038. Epub 2007 Jul 12. Neuroscience. 2007. PMID: 17629415

4

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

5

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. Marini C, et al. Among authors: mulley jc. Brain. 2003 Jan;126(Pt 1):230-40. doi: 10.1093/brain/awg018. Brain. 2003. PMID: 12477709

6

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.

7

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

Tan NC, Heron SE, Scheffer IE, Berkovic SF, Mulley JC. Tan NC, et al. Among authors: mulley jc. Epilepsia. 2005 May;46(5):778-80. doi: 10.1111/j.1528-1167.2005.49004.x. Epilepsia. 2005. PMID: 15857448 Free article.

8

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.

9

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.

10

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).

Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Scheffer IE, et al. Among authors: mulley jc. Epilepsia. 2005;46 Suppl 10:41-7. doi: 10.1111/j.1528-1167.2005.00358.x. Epilepsia. 2005. PMID: 16359471 Free article. Review. No abstract available.

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