Dibbens LM - Search Results

1

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. Wallace RH, et al. Among authors: dibbens lm. Neurology. 2003 Sep 23;61(6):765-9. doi: 10.1212/01.wnl.0000086379.71183.78. Neurology. 2003. PMID: 14504318

2

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. 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.

3

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: dibbens lm. 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.

4

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF. Marini C, et al. Among authors: dibbens lm. Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x. Epilepsia. 2004. PMID: 15101828 Free article.

5

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. 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

6

SCN1A mutations and epilepsy.

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

7

Susceptibility genes for complex epilepsy.

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

8

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: dibbens lm. 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.

9

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.

Feng HJ, Kang JQ, Song L, Dibbens L, Mulley J, Macdonald RL. Feng HJ, et al. J Neurosci. 2006 Feb 1;26(5):1499-506. doi: 10.1523/JNEUROSCI.2913-05.2006. J Neurosci. 2006. PMID: 16452673 Free PMC article.

10

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.

Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. Mulley JC, et al. Neurology. 2006 Sep 26;67(6):1094-5. doi: 10.1212/01.wnl.0000237322.04338.2b. Neurology. 2006. PMID: 17000989

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