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Karen L Oliver
Karen L Oliver
University of Melbourne; Walter & Eliza Hall Institute
Verified email at unimelb.edu.au - Homepage
Title
Cited by
Cited by
Year
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ...
Nature genetics 44 (11), 1188-1190, 2012
4012012
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ...
Nature genetics 47 (1), 39-46, 2015
3082015
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl extrusion and dendritic spine formation
M Puskarjov, P Seja, SE Heron, TC Williams, F Ahmad, X Iona, KL Oliver, ...
EMBO reports 15 (6), 723-729, 2014
1952014
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32
Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ...
Human molecular genetics 21 (24), 5359-5372, 2012
1532012
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ...
The American Journal of Human Genetics 87 (3), 371-375, 2010
1392010
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ...
Neurology 87 (1), 77-85, 2016
1172016
The genetic landscape of epilepsy of infancy with migrating focal seizures
R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, ...
Annals of neurology 86 (6), 821-831, 2019
1132019
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
KL Oliver, S Franceschetti, CJ Milligan, M Muona, SA Mandelstam, ...
Annals of neurology 81 (5), 677-689, 2017
712017
De novo mutations in PPP3CA cause severe neurodevelopmental disease with seizures
CT Myers, N Stong, EI Mountier, KL Helbig, S Freytag, JE Sullivan, ...
The American Journal of Human Genetics 101 (4), 516-524, 2017
522017
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
JA Damiano, Z Afawi, M Bahlo, M Mauermann, A Misk, T Arsov, KL Oliver, ...
Human molecular genetics 24 (16), 4483-4490, 2015
512015
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
Z Afawi, S Mandelstam, AD Korczyn, S Kivity, S Walid, A Shalata, ...
Epilepsy research 105 (1-2), 240-244, 2013
462013
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies
CA Bennett, S Petrovski, KL Oliver, SF Berkovic
Neurology: Genetics 3 (4), e163, 2017
442017
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
C Courage, KL Oliver, EJ Park, JM Cameron, KA Grabińska, M Muona, ...
The American Journal of Human Genetics 108 (4), 722-738, 2021
412021
The epilepsy phenome/genome project
EPGP Collaborative
Clinical trials 10 (4), 568-586, 2013
39*2013
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
SF Berkovic, JF Staropoli, S Carpenter, KL Oliver, S Kmoch, ...
Neurology 87 (6), 579-584, 2016
382016
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24. 3
SE Heron, IE Scheffer, BE Grinton, H Eyre, KL Oliver, S Bain, SF Berkovic, ...
Epilepsia 51 (9), 1865-1869, 2010
382010
Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes
KL Oliver, V Lukic, NP Thorne, SF Berkovic, IE Scheffer, M Bahlo
PloS one 9 (7), e102079, 2014
372014
Glucose metabolism transporters and epilepsy: Only GLUT 1 has an established role
MS Hildebrand, JA Damiano, SA Mullen, ST Bellows, KL Oliver, ...
Epilepsia 55 (2), e18-e21, 2014
372014
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features
SF Berkovic, KL Oliver, L Canafoglia, P Krieger, JA Damiano, ...
Brain 142 (1), 59-69, 2019
342019
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
MF Bennett, KL Oliver, BM Regan, ST Bellows, AL Schneider, H Rafehi, ...
European Journal of Human Genetics 28 (7), 973-978, 2020
332020
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