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Items: 1 to 50 of 217

1.

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF.

Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22.

2.

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, Berkovic SF.

Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.

3.

Genetics of epilepsy: The testimony of twins in the molecular era.

Vadlamudi L, Milne RL, Lawrence K, Heron SE, Eckhaus J, Keay D, Connellan M, Torn-Broers Y, Howell RA, Mulley JC, Scheffer IE, Dibbens LM, Hopper JL, Berkovic SF.

Neurology. 2014 Sep 16;83(12):1042-8. doi: 10.1212/WNL.0000000000000790. Epub 2014 Aug 8.

4.

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium, Friend K, Bain SM, Yu S.

Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043.

PMID:
24300712
5.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

6.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE.

Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.

PMID:
23542697
7.

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26.

PMID:
23184456
8.

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.

Klein KM, O'Brien TJ, Praveen K, Heron SE, Mulley JC, Foote S, Berkovic SF, Scheffer IE.

Epilepsia. 2012 Aug;53(8):e151-5. doi: 10.1111/j.1528-1167.2012.03585.x. Epub 2012 Jul 10.

9.

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.

Dibbens LM, Hodgson BL, Helbig KL, Oliver KL, Mulley JC, Berkovic SF, Scheffer IE.

Epilepsy Res. 2012 Sep;101(3):277-9. doi: 10.1016/j.eplepsyres.2012.04.007. Epub 2012 Apr 30.

PMID:
22551666
10.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P.

Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.

PMID:
22275249
11.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

12.

"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!

Mulley JC, Heron SE, Wallace RH, Gecz J, Dibbens LM.

Epilepsia. 2011 Sep;52(9):1757-8. doi: 10.1111/j.1528-1167.2011.03054.x. No abstract available.

13.

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.

Mulley JC, Iona X, Hodgson B, Heron SE, Berkovic SF, Scheffer IE, Dibbens LM.

Neurol Res Int. 2011;2011:917565. doi: 10.1155/2011/917565. Epub 2011 Jul 16.

14.

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.

Mulley JC, Scheffer IE, Desai T, Bayly MA, Grinton BE, Vears DF, Berkovic SF, Dibbens LM.

Epilepsia. 2011 Oct;52(10):e139-42. doi: 10.1111/j.1528-1167.2011.03188.x. Epub 2011 Jul 21.

15.

De novo SCN1A mutations in migrating partial seizures of infancy.

Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE.

Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13.

16.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE.

Neurology. 2011 Apr 26;76(17):1514-9. doi: 10.1212/WNL.0b013e318217e7b6.

PMID:
21519002
17.

Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.

Mulley JC, Heron SE, Dibbens LM.

Epilepsia. 2011 Mar;52(3):649-50. doi: 10.1111/j.1528-1167.2010.02953.x. No abstract available.

18.

Epilepsy and the new cytogenetics.

Mulley JC, Mefford HC.

Epilepsia. 2011 Mar;52(3):423-32. doi: 10.1111/j.1528-1167.2010.02932.x. Epub 2011 Jan 26. Review.

19.

Genetic variations and associated pathophysiology in the management of epilepsy.

Mulley JC, Dibbens LM.

Appl Clin Genet. 2011 Aug 8;4:113-25. doi: 10.2147/TACG.S7407. Print 2011.

20.

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB.

J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23.

PMID:
20972251
21.

Genetically complex epilepsies, copy number variants and syndrome constellations.

Mefford HC, Mulley JC.

Genome Med. 2010 Oct 5;2(10):71. doi: 10.1186/gm192.

22.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J.

Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001.

23.

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

McMahon JM, Scheffer IE, Nicholl JK, Waters W, Eyre H, Hinton L, Nelson P, Yu S, Dibbens LM, Berkovic SF, Mulley JC.

Epileptic Disord. 2010 Sep;12(3):192-8. doi: 10.1684/epd.2010.0326. Epub 2010 Jul 19.

24.

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.

McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF.

Lancet Neurol. 2010 Jun;9(6):592-8. doi: 10.1016/S1474-4422(10)70107-1. Epub 2010 May 4.

25.

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC.

Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x.

26.

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

Heron SE, Hernandez M, Edwards C, Edkins E, Jansen FE, Scheffer IE, Berkovic SF, Mulley JC.

Epilepsia. 2010 Feb;51(2):293-6. doi: 10.1111/j.1528-1167.2009.02317.x. Epub 2009 Oct 27.

27.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF.

Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10.

28.

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.

J Med Genet. 2010 Feb;47(2):137-41. doi: 10.1136/jmg.2008.065912. Epub 2009 Jul 8.

PMID:
19589774
29.

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
30.

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.

Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12.

31.
32.

Forty years from markers to genes.

Mulley JC.

Twin Res Hum Genet. 2008 Aug;11(4):368-83. doi: 10.1375/twin.11.4.368. Review.

PMID:
18637738
33.

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.

Derry CP, Heron SE, Phillips F, Howell S, MacMahon J, Phillips HA, Duncan JS, Mulley JC, Berkovic SF, Scheffer IE.

Epilepsia. 2008 Dec;49(12):2125-9. doi: 10.1111/j.1528-1167.2008.01652.x. Epub 2008 May 9.

34.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J.

Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11.

35.

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.

Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C, Patel J, Berkovic SF, Mulley JC, Steinlein OK, Bertrand D.

Mol Pharmacol. 2008 Aug;74(2):379-91. doi: 10.1124/mol.107.044545. Epub 2008 May 2.

PMID:
18456869
36.

Gene expression analysis in absence epilepsy using a monozygotic twin design.

Helbig I, Matigian NA, Vadlamudi L, Lawrence KM, Bayly MA, Bain SM, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK.

Epilepsia. 2008 Sep;49(9):1546-54. doi: 10.1111/j.1528-1167.2008.01630.x. Epub 2008 Apr 24.

37.

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M.

Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28.

38.

Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Helbig I, Scheffer IE, Mulley JC, Berkovic SF.

Lancet Neurol. 2008 Mar;7(3):231-45. doi: 10.1016/S1474-4422(08)70039-5. Review.

PMID:
18275925
39.

Epilepsy and mental retardation limited to females: an under-recognized disorder.

Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF.

Brain. 2008 Apr;131(Pt 4):918-27. doi: 10.1093/brain/awm338. Epub 2008 Jan 29.

PMID:
18234694
40.

Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.

Wallace RH, Freeman JL, Shouri MR, Izzillo PA, Rosenfeld JV, Mulley JC, Harvey AS, Berkovic SF.

Neurology. 2008 Feb 19;70(8):653-5. Epub 2007 Dec 5. No abstract available.

PMID:
18057317
41.

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

Tan HO, Reid CA, Single FN, Davies PJ, Chiu C, Murphy S, Clarke AL, Dibbens L, Krestel H, Mulley JC, Jones MV, Seeburg PH, Sakmann B, Berkovic SF, Sprengel R, Petrou S.

Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17536-41. Epub 2007 Oct 18.

42.

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.

Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'Rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, Kalviainen R, O'Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB.

Lancet Neurol. 2007 Nov;6(11):970-80.

PMID:
17913586
43.

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW.

Ann Neurol. 2007 Dec;62(6):560-8.

PMID:
17696120
44.

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC.

J Med Genet. 2007 Dec;44(12):791-6. Epub 2007 Aug 3.

45.

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
46.

A polygenic heterogeneity model for common epilepsies with complex genetics.

Dibbens LM, Heron SE, Mulley JC.

Genes Brain Behav. 2007 Oct;6(7):593-7. Epub 2007 Jun 7. Review.

47.

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.

Mol Cell Neurosci. 2007 Jun;35(2):292-301. Epub 2007 Mar 13.

PMID:
17467289
48.

Association studies and functional validation or functional validation alone?

Heron SE, Sanchez L, Scheffer IE, Berkovic SF, Mulley JC.

Epilepsy Res. 2007 May;74(2-3):237-8. Epub 2007 Apr 11. No abstract available.

PMID:
17433625
49.

Channelopathies in idiopathic epilepsy.

Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC.

Neurotherapeutics. 2007 Apr;4(2):295-304. Review.

PMID:
17395140
50.

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF.

Epilepsia. 2007 Jun;48(6):1138-42. Epub 2007 Mar 26.

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