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Items: 1 to 20 of 580

1.

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
2.

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.

Epi4K Consortium.; EuroEPINOMICS-RES Consortium.; Epilepsy Phenome Genome Project..

Eur J Hum Genet. 2017 May 17. doi: 10.1038/ejhg.2017.61. [Epub ahead of print]

PMID:
28513609
3.

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
4.

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.

5.

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
6.

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
7.

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 Mar 23. doi: 10.1038/gim.2017.15. [Epub ahead of print]

PMID:
28333919
8.

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM.

Epilepsia. 2017 Apr;58(4):512-521. doi: 10.1111/epi.13709. Epub 2017 Mar 8.

PMID:
28276062
9.

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
10.

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
11.

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.

PMID:
28098945
12.

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE.

Epilepsia. 2017 Feb;58(2):e26-e30. doi: 10.1111/epi.13649. Epub 2017 Jan 13.

PMID:
28084635
13.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be.; Epilepsy Phenome/Genome Project.; Epi4K Consortium.; EuroEPINOMICS-RES Consortium..

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012. No abstract available.

PMID:
28061363
14.

Epilepsy research in 2016: new treatment directions.

Berkovic SF.

Lancet Neurol. 2017 Jan;16(1):7-9. doi: 10.1016/S1474-4422(16)30334-9. No abstract available.

PMID:
27979357
15.

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS.

Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.

PMID:
27810516
16.

Synaptic Zn2+ and febrile seizure susceptibility.

Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S.

Br J Pharmacol. 2017 Jan;174(2):119-125. doi: 10.1111/bph.13658. Epub 2016 Nov 28. Review.

PMID:
27771943
17.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J.

Neurology. 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12.

PMID:
27733563
18.

Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy.

Tsai MH, Vaughan DN, Perchyonok Y, Fitt GJ, Scheffer IE, Berkovic SF, Jackson GD.

Epilepsia. 2016 Oct;57(10):1719-1728. doi: 10.1111/epi.13505. Epub 2016 Aug 26.

PMID:
27562507
19.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Epi4K Consortium. Electronic address: epi4k@columbia.edu.; Epi4K Consortium..

Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.

20.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL.

Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21.

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