Berkovic SF - Search Results

1

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.

Berecki G, Helbig KL, Ware TL, Grinton B, Skraban CM, Marsh ED, Berkovic SF, Petrou S. Berecki G, et al. Among authors: berkovic sf. Int J Mol Sci. 2020 Aug 31;21(17):6333. doi: 10.3390/ijms21176333. Int J Mol Sci. 2020. PMID: 32878331 Free PMC article.

2

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

Bowser DN, Wagner DA, Czajkowski C, Cromer BA, Parker MW, Wallace RH, Harkin LA, Mulley JC, Marini C, Berkovic SF, Williams DA, Jones MV, Petrou S. Bowser DN, et al. Among authors: berkovic sf. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15170-5. doi: 10.1073/pnas.212320199. Epub 2002 Nov 1. Proc Natl Acad Sci U S A. 2002. PMID: 12415111 Free PMC article.

3

Channelopathies as a genetic cause of epilepsy.

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

4

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: berkovic sf. Neurology. 2003 Sep 23;61(6):765-9. doi: 10.1212/01.wnl.0000086379.71183.78. Neurology. 2003. PMID: 14504318

5

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: berkovic sf. 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.

6

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. Ann Neurol. 2004 Apr;55(4):550-7. doi: 10.1002/ana.20029. Ann Neurol. 2004. PMID: 15048894

7

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: berkovic sf. Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x. Epilepsia. 2004. PMID: 15101828 Free article.

8

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: berkovic sf. 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

9

SCN1A mutations and epilepsy.

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

10

Human epilepsies: interaction of genetic and acquired factors.

Berkovic SF, Mulley JC, Scheffer IE, Petrou S. Berkovic SF, et al. Trends Neurosci. 2006 Jul;29(7):391-397. doi: 10.1016/j.tins.2006.05.009. Trends Neurosci. 2006. PMID: 16769131 Review.

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