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Vadlamudi, L., Vears, D. F., Hughes, A., Pedagogos, E. and Berkovic, S. F. (2006) Action myoclonus–renal failure syndrome: A cause for worsening tremor in young adults. Neurology, 67 7: 1310-1311. doi:10.1212/01.wnl.0000238424.23177.5e 143   7 Cited 7 times in Scopus7 0
Berkovic, S. F., Corbett, M. A., Schwake, M., Bahlo, M., Dibbens, L. M., Lin, M., Gandolfo, L., Vears, D., O'Sullivan, J., Robertson, T., Bayly, M. A., Gardner, A. E., Vlaar, A. M., Korenke, G. C., Bloem, B. R., de Coo, I. F., Verhagen, J. M. A, Lehesjoki, A. E., Saftig, P. and Gecz, J. (2011). A New Form of Progressive Myoclonus Epilepsy with Early Ataxia and Scoliosis Due to Mutation in the Golgi Protein Gosr2. In: Epilepsia. 29th International Epilepsy Congress, Rome Italy, (94-95). Aug 28-Sep 01, 2011. 85   0
Marini, C., Harkin, L. A., Wallace, R. H., Mulley, J. C., Scheffer, I. E. and Berkovic, S. F. (2003) Childhood absence epilepsy and febrile seizures: A family with a GABAA receptor mutation. Brain, 126 1: 230-240. doi:10.1093/brain/awg018 241   91 Cited 98 times in Scopus98 0
Scheffer, I. E., Wallace, R. H., Mulley, J. C. and Berkovic, S. F. (2001) Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain & Development, 23 7: 732-735. doi:10.1016/S0387-7604(01)00272-8 203   41 Cited 46 times in Scopus46 0
Rubboli, G., Franceschetti, S., Canafoglia, L., Gambardella, A., Riguzzi, P., Dibbens, L. M., Andermann, F., Bayly, M. A., Joensuu, T., Vears, D. F., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Pasini, E., Lehesjoki, A. E., Berkovic, S. F. and Michelucci, R (2010). CLINICAL AND NEUROPHYSIOLOGICAL FEATURES OF PROGRESSIVE MYOCLONUS EPILEPSY ( PME) ASSOCIATED WITH SCARB2 MUTATIONS WITHOUT RENAL FAILURE. In: EPILEPSIA. 9th European Congress on Epileptology, Rhodes GREECE, (23-23). JUN 27-JUL 01, 2010. 39   0
Reutens, D.C., Puce. A. and Berkovic, S.F. (1993) Cortical hyperexcitability in progressive myoclonus epilepsy: A study with transcranial magnetic stimulation.. Neurology, 43 1: 186-192. 54   78
Newton, M.R., Berkovic, S.F., Austin, M.C., Reutens, D.C., McKay W.J. and Bladin, P.F. (1992) Dystonia, clinical lateralization and regional blood flow changes in temporal lobe seizures. Neurology, 42 2: 371-377. 63   159
Berkovic, S. F., Serratosa, J. M., Phillips, H. A., Xiong, L., Andermann, E., Diaz-Otero, F., Gomez-Garre, P., Martin, M., Fernandez-Bullido, Y., Andermann, F., Lopes-Cendes, I., Dubeau, F., Desbiens, R., Scheffer, I. E. and Wallace, R. H. (2004) Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12. Epilepsia, 45 9: 1054-1060. doi:10.1111/j.0013-9580.2004.30502.x 175   39 Cited 42 times in Scopus42 5
Xua, R., Thomas, E.A., Gazina, E. V., Richards, K. L., Quick, M., Wallace, R. H., Harkin, L. A., Heron, S. E., Berkovic, S.F., Scheffer, I. E., Mulley, J. C. and Petrou, S. (2007) Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function. Neuroscience, 148 1: 164-174. doi:10.1016/j.neuroscience.2007.05.038 48   34 Cited 37 times in Scopus37 3
Vadlamudi, L., Scheffer, I. E. and Berkovic, S. F. (2003) Genetics of temporal lobe epilepsy. Journal of Neurology, Neurosurgery and Psychiatry, 74 10: 1359-1361. doi:10.1136/jnnp.74.10.1359 36   34 Cited 38 times in Scopus38 0
Reutens, D.C., Haddad, A.P., Cantwell, L. and Berkovic, S.F. (1992) HLA-DR2 negative narcolepsy in Australian Caucasians: Clinical features, serology and sequence specific oligonucleotide typing. Journal of Neurological Sciences, 113 1: 26-30. doi:10.1016/0022-510X(92)90260-R 27   2 Cited 1 times in Scopus1 0
Reutens, D.C. and Berkovic, S.F. (1995) Idiopathic generalized epilepsy of adolescence: Are the syndromes clinically distinct?. Neurology, 45 8: 1469-1476. 51   62
Reutens, D. C., Dubeau, F., Melanson, D., Remillard, G. M., Espinosa, J. A., King, M., Berkovic, S. F. and Andermann, F. (1995) Intractable partial epilepsy following low dose scalp irradiation in infancy. Annals of Neurology, 38 6: 951-954. doi:10.1002/ana.410380617 46   1 Cited 2 times in Scopus2 0
Vadlamudi, Lata, Harvey, Simon A., Connellan, Mary M., Milne, Roger L., Hopper, J. L., Scheffer, I. E. and Berkovic, S. F. (2004) Is benign Rolandic epilepsy genetically determined?. Annals of Neurology, 56 1: 129-132. doi:10.1002/ana.20153 67   31 Cited 34 times in Scopus34 0
Reutens, D. C., Berkovic, S. F., Kalnins, R. M., McKelvie, P., Saling, M. M. and Fabinyi, G. C. (1993) Localised neuronal migration disorder and intractable epilepsy: A prenatal vascular aetiology. Journal of Neurology Neurosurgery and Psychiatry, 56 3: 314-316. doi:10.1136/jnnp.56.3.314 50   15 0
Dibbens, L. M., Scheffer, I. E., Regan, B. M., Mandelstam, S., Crompton, D. E., Hodgson, B. L., Licchetta, L., Provini, F., Bisulli, F., Vadlamudi, L., Gecz, J., Connelly, A., Tinuper, P., Ricos, M. G., Berkovic, S. F. and Heron, S. E. (2014). Mutations in Depdc5 Are a Major Cause of Lesional and Non-Lesional Focal Epilepsy. In: Epilepsia. 11th European Congress on Epileptology, Stockholm Sweden, (11-11). Jun 29-Jul 03, 2014. 12   0
Kron, K. L., Afawi, Z., Mazarib, A., Kivity, S., Walid, S., Kramer, U., Wallace, R. H., Mulley, J. C., Neufeld, M.Y., Korczyn, A. D. and Berkovic, S. F. (2007). Myoclonic-astatic epilepsy : Consanguineous families suggest autosomal recessive inheritance.. In: American Epilepsy Society 61st Annual Meeting : Program Book. AES 2007 Annual Meeting, Philadephia, USA, (62-62). 30 November-4 December 2007. 37  
Dibbens, L. M., Ekberg, Jenny, Taylor, I., Hodgson, B. L., Conroy, Sarah Jane, Lensink, I. L., Kumar, S., Zielinski, M. A., Harkin, L. A., Sutherland, G. R., Adams, David J., Berkovic, S. F., Scheffer, I. E., Mulley, J. C. and Poronnik, Phillip (2007) NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Genes Brain And Behavior, 6 8: 750-755. doi:10.1111/j.1601-183X.2007.00305.x 79   16 Cited 15 times in Scopus15 0
Macdonell, R.A.L., King, M.A., Newton, M.R., Curatolo, J.M., Reutens, D.C. and Berkovic, S.F. (2001) Prolonged cortical silent period after transcranial magnetic stimulation in generalized epilepsy. Neurology, 57 4: 706-708. 46   36
Fedi, M., Berkovic, S. F., Scheffer, I. E., O'Keefe, G., Marini, C., Mulligan, R., Gong, S., Tochon-Danguy, H. and Reutens, D. C. (2008) Reduced striatal D-1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. Neurology, 71 11: 795-798. doi:10.1212/01.wnl.0000316192.52731.77 61   25 Cited 29 times in Scopus29 0
McRae, A. F., Matigian, N. A., Vadlamudi, L., Mulley, J. C., Mowry, B., Martin, N. G., Berkovic, S. F., Hayward, N. K. and Visscher, P. M. (2007) Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines. Human Molecular Genetics, 16 4: 364-373. doi:10.1093/hmg/ddl456 88   21 Cited 21 times in Scopus21 0
Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F, Franceschetti, S., Canafoglia, L, Wallace, Robyn H., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki, A. E. and Berkovic, S. F. (2009) SCARB2 mutations in progressive Myoclonus Epilepsy (PME) without renal failure. Annals of Neurology, 66 4: 532-536. doi:10.1002/ana.21765 39   38 Cited 41 times in Scopus41 0
Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., Scheffer, I. E. and Berkovic, S. F. (2006) Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults. Neurology, 67 12: 2224-2226. doi:10.1212/01.wnl.0000249312.73155.7d 58   47 Cited 61 times in Scopus61 3
Wallace, R. H., Hodgson, B. L., Grinton, B .E., Gardiner, R. M., Robinson, R., Rodriguez-Casero, V., Sadleir, L., Morgan, J., Harkin, L. A., Dibbens, L. M., Yamamoto, T., Andermann, E., Mulley, J. C., Berkovic, S. F. and Scheffer, I. E. (2003) Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61 6: 765-769. 87   119 Cited 134 times in Scopus134
Wallace, R. H., Freeman, J. L., Shouri, M. R., Izzillo, P. A., Rosenfeld, J. V., Mulley, J. C., Harvey, A. S. and Berkovic, S. F. (2008) Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Neurology, 70 8: 653-655. doi:10.1212/01.wnl.0000284607.12906.c5 91   6 Cited 6 times in Scopus6 0
Carvill, G. L., Heavin, S. B., Yendle, S. C., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M. A., Calvert, S., Malone, S., Wallace, G., Stanley, T., Bye, A. M., Bleasel, A., Howell, K. B., Kivity, S., Mackay, M. T., Rodriguez-Casero, V, Webster, R., Korczyn, A., Zelnick, N., Lerman-Sagie, T., Lev, D., Møller, Steensbjerre R., Andrade, D. M., Freeman, J. L., Sadleir, L. G., Shendure, J., Berkovic, S. F., Scheffer, I. E. and Mefford, H. C. (2013). Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes. In: 30th International Epilepsy Congress. Abstracts. 30th International Epilepsy Congress, Montreal, QC, Canada, (16-16). 23-27 June 2013. doi:10.1111/epi.12228 37   0 0
Reutens, D.C., Howell, R.A., Gebert, K.E. and Berkovic, S.F. (1992) Validation of a questionnaire for clinical seizure diagnosis. Epilepsia, 33 6: 1065-1071. doi:10.1111/j.1528-1157.1992.tb01760.x 53   80 Cited 80 times in Scopus80 0