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Items: 23

1.

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

Dibbens LM, Harkin LA, Richards M, Hodgson BL, Clarke AL, Petrou S, Scheffer IE, Berkovic SF, Mulley JC.

Neurosci Lett. 2009 Apr 10;453(3):162-5. doi: 10.1016/j.neulet.2009.02.038. Epub 2009 Feb 21.

PMID:
19429026
2.

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.

Neuroscience. 2007 Aug 10;148(1):164-74. Epub 2007 Jul 12.

PMID:
17629415
3.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE.

Brain. 2007 Mar;130(Pt 3):843-52.

PMID:
17347258
4.

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.

Dibbens LM, Ekberg J, Taylor I, Hodgson BL, Conroy SJ, Lensink IL, Kumar S, Zielinski MA, Harkin LA, Sutherland GR, Adams DJ, Berkovic SF, Scheffer IE, Mulley JC, Poronnik P.

Genes Brain Behav. 2007 Nov;6(8):750-5. Epub 2007 Feb 26.

5.

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.

Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF.

Neurology. 2006 Dec 26;67(12):2224-6.

PMID:
17190949
6.

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF.

Brain. 2007 Jan;130(Pt 1):100-9. Epub 2006 Oct 4.

PMID:
17020904
7.

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

Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF.

Epilepsia. 2005;46 Suppl 10:41-7. Review. No abstract available.

8.

Susceptibility genes for complex epilepsy.

Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM.

Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. Review.

PMID:
16244322
9.

SCN1A mutations and epilepsy.

Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.

Hum Mutat. 2005 Jun;25(6):535-42. Review.

PMID:
15880351
10.

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.

Hum Mol Genet. 2004 Jul 1;13(13):1315-9. Epub 2004 Apr 28.

PMID:
15115768
11.

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.

Epilepsia. 2004 May;45(5):467-78.

12.

LGI1 mutations in temporal lobe epilepsies.

Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC.

Neurology. 2004 Apr 13;62(7):1115-9.

PMID:
15079010
13.

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.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
14.

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.

Brain. 2003 Jan;126(Pt 1):230-40.

PMID:
12477709
15.

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.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15170-5. Epub 2002 Nov 1.

16.

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.

Am J Hum Genet. 2002 Feb;70(2):530-6. Epub 2001 Dec 17.

17.

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF.

Nat Genet. 2001 May;28(1):49-52.

PMID:
11326275
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Formation of novel C1-oxidised abasic sites in alkylperoxyl radical-damaged plasmid DNA.

Harkin LA, Burcham PC.

Biochem Biophys Res Commun. 1997 Aug 8;237(1):1-5.

PMID:
9266818
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23.

Nerve growth factor mRNA content parallels altered sympathetic innervation in the spontaneously hypertensive rat.

Falckh PH, Harkin LA, Head RJ.

Clin Exp Pharmacol Physiol. 1992 Aug;19(8):541-5.

PMID:
1526060

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