Oliver KL - Search Results

1

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. Oliver KL, et al. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698

2

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. Heron SE, et al. Among authors: oliver kl. Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x. Epilepsia. 2010. PMID: 20384724 Free article.

3

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. Corbett MA, et al. Among authors: oliver kl. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.

4

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

Afawi Z, Suls A, Ekstein D, Kivity S, Neufeld MY, Oliver K, De Jonghe P, Korczyn AD, Berkovic SF. Afawi Z, et al. Epilepsia. 2010 Dec;51(12):2466-9. doi: 10.1111/j.1528-1167.2010.02726.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 21204808 Free article.

5

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

Afawi Z, Bassan H, Heron S, Oliver K, Straussberg R, Scheffer I, Leventer R, Korczyn A, Berkovic S. Afawi Z, et al. J Child Neurol. 2012 Oct;27(10):1260-3. doi: 10.1177/0883073811433460. Epub 2012 Mar 23. J Child Neurol. 2012. PMID: 22447848

6

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. Dibbens LM, et al. Among authors: oliver kl. Epilepsy Res. 2012 Sep;101(3):277-9. doi: 10.1016/j.eplepsyres.2012.04.007. Epub 2012 Apr 30. Epilepsy Res. 2012. PMID: 22551666

7

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Among authors: oliver kl. Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086396

8

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD. Afawi Z, et al. Among authors: oliver kl. Epilepsy Res. 2013 Jul;105(1-2):240-4. doi: 10.1016/j.eplepsyres.2013.02.005. Epub 2013 Mar 19. Epilepsy Res. 2013. PMID: 23517570

9

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl HH, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Among authors: oliver kl. Epilepsia. 2014 Feb;55(2):e18-21. doi: 10.1111/epi.12519. Epub 2014 Jan 31. Epilepsia. 2014. PMID: 24483274 Free article.

10

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

Puskarjov M, Seja P, Heron SE, Williams TC, Ahmad F, Iona X, Oliver KL, Grinton BE, Vutskits L, Scheffer IE, Petrou S, Blaesse P, Dibbens LM, Berkovic SF, Kaila K. Puskarjov M, et al. Among authors: oliver kl. EMBO Rep. 2014 Jun;15(6):723-9. doi: 10.1002/embr.201438749. Epub 2014 Mar 24. EMBO Rep. 2014. PMID: 24668262 Free PMC article.

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