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Items: 1 to 50 of 577

1.

Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity.

Pedersen M, Kowalczyk M, Omidvarnia A, Perucca P, Gooley S, Petrou S, Scheffer IE, Berkovic SF, Jackson GD.

Neurol Genet. 2019 Jun 7;5(4):e340. doi: 10.1212/NXG.0000000000000340. eCollection 2019 Aug.

PMID:
31321301
2.

Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes.

Mohandas N, Loke YJ, Mackenzie L, Bennett C, Berkovic SF, Craig JM, Vadlamudi L.

Epilepsy Res. 2019 Jul 4;156:106163. doi: 10.1016/j.eplepsyres.2019.106163. [Epub ahead of print]

PMID:
31310899
3.

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS.

Epilepsy Res. 2019 Jul 2;155:106161. doi: 10.1016/j.eplepsyres.2019.106161. [Epub ahead of print] Review.

PMID:
31295639
4.

Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group.

Samarasekera SR, Wynd AW, McIntosh AM, Berkovic SF.

Epilepsy Res. 2019 Jun 16;155:106154. doi: 10.1016/j.eplepsyres.2019.106154. [Epub ahead of print]

PMID:
31254798
5.

Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach.

Mohandas N, Loke YJ, Hopkins S, Mackenzie L, Bennett C, Berkovic SF, Vadlamudi L, Craig JM.

Epigenomics. 2019 Jun;11(8):951-968. doi: 10.2217/epi-2018-0136. Epub 2019 Jun 5.

PMID:
31166810
6.

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Shoubridge C, Jackson M, Grinton B, Berkovic SF, Scheffer IE, Huskins S, Thomas A, Ware T.

Am J Med Genet A. 2019 May 30. doi: 10.1002/ajmg.a.61216. [Epub ahead of print]

PMID:
31145546
7.

Epilepsy in families: Age at onset is a familial trait, independent of syndrome.

Ellis CA, Churilov L, Epstein MP, Xie SX, Bellows ST, Ottman R, Berkovic SF; Epi4K Consortium.

Ann Neurol. 2019 Jul;86(1):91-98. doi: 10.1002/ana.25499. Epub 2019 May 20.

PMID:
31050039
8.

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project.

N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. No abstract available.

PMID:
30995385
9.

Bilateral volume reduction in posterior hippocampus in psychosis of epilepsy.

Allebone J, Kanaan R, Maller J, O'Brien T, Mullen SA, Cook M, Adams SJ, Vogrin S, Vaughan DN, Connelly A, Kwan P, Berkovic SF, D'Souza WJ, Jackson G, Velakoulis D, Wilson SJ.

J Neurol Neurosurg Psychiatry. 2019 Jun;90(6):688-694. doi: 10.1136/jnnp-2018-319396. Epub 2019 Feb 22.

PMID:
30796132
10.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
11.

Metabolic patterns and seizure outcomes following anterior temporal lobectomy.

Cahill V, Sinclair B, Malpas CB, McIntosh AM, Chen Z, Vivash LE, O'Shea MF, Wilson SJ, Desmond PM, Berlangieri SU, Hicks RJ, Rowe CC, Morokoff AP, King JA, Fabinyi GC, Kaye AH, Kwan P, Berkovic SF, O'Brien TJ.

Ann Neurol. 2019 Feb;85(2):241-250. doi: 10.1002/ana.25405. Epub 2019 Jan 17.

PMID:
30609109
12.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

13.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S.

Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.

PMID:
30561534
14.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.

Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.

15.

A new home for the Genetic Literacy series.

Tan NC, Berkovic SF, Lowenstein DH.

Epileptic Disord. 2018 Dec 1;20(6):456. doi: 10.1684/epd.2018.1022. No abstract available.

PMID:
30530440
16.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC.

Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023.

17.

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.

18.

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.

Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ.

Lancet Neurol. 2019 Jan;18(1):107-116. doi: 10.1016/S1474-4422(18)30368-5. Epub 2018 Nov 21. Review.

PMID:
30470609
19.

Genetic literacy series: genetic epilepsy with febrile seizures plus.

Myers KA, Scheffer IE, Berkovic SF; ILAE Genetics Commission.

Epileptic Disord. 2018 Aug 1;20(4):232-238. doi: 10.1684/epd.2018.0985. Review.

PMID:
30078767
20.

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Kinay D, Oliver KL, Tüzün E, Damiano JA, Ulusoy C, Andermann E, Hildebrand MS, Bahlo M, Berkovic SF.

Epilepsia. 2018 Aug;59(8):e125-e129. doi: 10.1111/epi.14506. Epub 2018 Jul 4.

PMID:
29974457
21.

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S.

Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525. doi: 10.1073/pnas.1800077115. Epub 2018 May 29.

22.

Genetic generalized epilepsies.

Mullen SA, Berkovic SF; ILAE Genetics Commission.

Epilepsia. 2018 Jun;59(6):1148-1153. doi: 10.1111/epi.14042. Epub 2018 May 9. Review.

23.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Hildebrand MS, Harvey AS, Malone S, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF.

Neurol Genet. 2018 May 1;4(3):e236. doi: 10.1212/NXG.0000000000000236. eCollection 2018 Jun.

24.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC.

N Engl J Med. 2018 Apr 26;378(17):1646-1648. doi: 10.1056/NEJMc1714579. No abstract available.

25.

Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies?

Reid CA, Rollo B, Petrou S, Berkovic SF.

Epilepsia. 2018 May;59(5):915-922. doi: 10.1111/epi.14077. Epub 2018 Apr 16. Review.

26.

A case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy).

Samarasekera SR, Berkovic SF, Scheffer IE.

J Sleep Res. 2018 Oct;27(5):e12669. doi: 10.1111/jsr.12669. Epub 2018 Feb 25.

PMID:
29479765
27.

Consistency of Long-Term Subdural Electrocorticography in Humans.

Nurse ES, John SE, Freestone DR, Oxley TJ, Ung H, Berkovic SF, O'Brien TJ, Cook MJ, Grayden DB.

IEEE Trans Biomed Eng. 2018 Feb;65(2):344-352. doi: 10.1109/TBME.2017.2768442.

PMID:
29364119
28.

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS.

PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018.

29.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.

van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B.

Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. Epub 2018 Jan 19.

PMID:
29352102
30.

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456. Review.

31.

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

Damiano JA, Do H, Ozturk E, Burgess R, Kalnins R, Jones NC, Dobrovic A, Berkovic SF, Hildebrand MS.

Epileptic Disord. 2017 Dec 1;19(4):450-455. doi: 10.1684/epd.2017.0944.

32.

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.

Mullen SA, Carney PW, Roten A, Ching M, Lightfoot PA, Churilov L, Nair U, Li M, Berkovic SF, Petrou S, Scheffer IE.

Neurology. 2018 Jan 2;90(1):e67-e72. doi: 10.1212/WNL.0000000000004769. Epub 2017 Dec 1.

PMID:
29196578
33.

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB.

PLoS Genet. 2017 Nov 29;13(11):e1007104. doi: 10.1371/journal.pgen.1007104. eCollection 2017 Nov.

34.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

35.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
36.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL.

Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21.

37.

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J, Silk M, Wang Q, Berkovic SF, Liu L, Ascher DB, Balding DJ, Petrovski S.

Genome Res. 2017 Oct;27(10):1715-1729. doi: 10.1101/gr.226589.117. Epub 2017 Sep 1.

38.

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE.

Neurology. 2017 Sep 19;89(12):1210-1219. doi: 10.1212/WNL.0000000000004384. Epub 2017 Aug 25.

PMID:
28842445
39.

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA, Petrovski S, Oliver KL, Berkovic SF.

Neurol Genet. 2017 Jul 6;3(4):e163. doi: 10.1212/NXG.0000000000000163. eCollection 2017 Aug.

40.

Familial mesial temporal lobe epilepsy and the borderland of déjà vu.

Perucca P, Crompton DE, Bellows ST, McIntosh AM, Kalincik T, Newton MR, Vajda FJE, Scheffer IE, Kwan P, O'Brien TJ, Tan KM, Berkovic SF.

Ann Neurol. 2017 Aug;82(2):166-176. doi: 10.1002/ana.24984. Epub 2017 Jul 19.

PMID:
28681459
41.

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J.

Eur J Med Genet. 2017 Aug;60(8):437-443. doi: 10.1016/j.ejmg.2017.06.002. Epub 2017 Jun 8.

PMID:
28602933
42.

Cannabinoids for Epilepsy - Real Data, at Last.

Berkovic SF.

N Engl J Med. 2017 May 25;376(21):2075-2076. doi: 10.1056/NEJMe1702205. No abstract available.

PMID:
28538129
43.

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Peeraer A, Damiano JA, Bellows ST, Scheffer IE, Berkovic SF, Mullen SA, Hildebrand MS.

Epilepsy Res. 2017 Jul;133:54-57. doi: 10.1016/j.eplepsyres.2017.04.007. Epub 2017 Apr 10.

PMID:
28419980
44.

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

McGlade A, Myers KA, Berkovic SF, Scheffer IE, Petrovski S, Hildebrand MS.

Ann Clin Transl Neurol. 2017 Mar 23;4(4):276-277. doi: 10.1002/acn3.401. eCollection 2017 Apr. No abstract available.

45.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
46.

Reply: Transcranial magnetic stimulation as a biomarker for epilepsy.

Badawy RA, Macdonell RA, Berkovic SF, Vogrin SJ, Jackson GD, Cook MJ.

Brain. 2017 Mar 1;140(3):e19. doi: 10.1093/brain/aww346. No abstract available.

PMID:
28364546
47.

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

Bagnall RD, Ingles J, Yeates L, Berkovic SF, Semsarian C.

Genet Med. 2017 Oct;19(10):1127-1133. doi: 10.1038/gim.2017.15. Epub 2017 Mar 23.

PMID:
28333919
48.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P.

Epilepsy Res. 2017 Mar;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. Epub 2017 Feb 7.

PMID:
28199897
49.

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Kivity S, Oliver KL, Afawi Z, Damiano JA, Arsov T, Bahlo M, Berkovic SF.

Epilepsy Res. 2017 Mar;131:9-14. doi: 10.1016/j.eplepsyres.2017.01.012. Epub 2017 Feb 4.

PMID:
28192756
50.

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS.

Epilepsia. 2017 Mar;58(3):e40-e43. doi: 10.1111/epi.13666. Epub 2017 Jan 18.

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