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Afawi, Z, Oliver, K, Kivity, S, MA, Heron, SE, Mulley, JC & Dibbens, LM 2016, 'Multiplex families with epilepsy: success of clinical and molecular genetic characterization', Neurology, v. 86, no.8, pp. 713-722. Gardella, E, Becker, F, M?ller, RS, Schubert, J, Heron, SE, Dibbens, LM & Weber, Y 2016, 'Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation', Annals of Neurology, v. 79, no.3, pp. 428-436. Ricos, MG, Hodgson, B, PT, SA, Ong, YS, Heron, SE, Bayly, MA & Dibbens, LM 2016, 'Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy', Annals of Neurology, v.79,no.1, pp. 120-131. Damiano, JA, Mullen, SA, Hildebrand, MS, Bellows, ST, Lawrence, KM, Arsov, T, Dibbens, L, Major, H, Dahl, H-HM, Mefford, HC, Darbro, BW, Scheffer, IE & Berkovic, SF 2015, 'Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy', Epilepsy Research, v. 117, pp. 70-73. Muona, M, Berkovic, S, Dibbens, LM, Oliver, K, Bayly, MA, Heron, SE & Lehesjoki, A 2015, 'A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy', Nature Genetics, v. 47, pp. 39-46. M?ller, RS, Heron, SE, Larsen, LH, Lim, CX, Ricos, MG, Bayly, MA & Dibbens, LM 2015, 'Mutations in KCNT1 cause a spectrum of focal epilepsies', Epilepsia, v. 56, no. 9, pp. e114-e120. Yamamoto, T, Shimojima, K, Sangu, N, Komoike, Y, Heron, SE, Dibbens, LM & Okumura, A 2015, 'Single Nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures', PLoS One, v. 10, no. 3, e0118946, pp. 1-11. Carvill, GL, Weckhuysen, S, McMahon, JM, Hartmann, C, Hodgson, B, Dibbens, LM & Mefford, HC 2014, 'GABRA1 and STXBP1 : novel genetic causes of Dravet syndrome', Neurology, v. 82, no. 14, pp. 1245-1253. Kim, Y, Bellows, S, McMahon, JM, Iona, X, Damiano, JA, Dibbens, LM, Kelley, K, Gill, D, Cross, J, Berkovic, S & Scheffer, IE 2014, 'Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline', Developmental Medicine and Child Neurology, v. 56, no. 1, pp. 85-90. Milligan, CJ, Li, M, Gazina, E V, Heron, SE, Nair, U, Tager, C, Reid, CA, Venkat, A, Younkin, DP, Dlugos, DJ, Petrovski, S, Goldstein, DB, Dibbens, LM, Scheffer, IE, Berkovic, SF & Petrou, S 2014, 'KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine', Annals of Neurology, v. 75, no. 4, pp. 581-590. Puskarjov, M, Seja, P, Heron, SE, Williams, T, Ahmad, F, Iona, X, Oliver, K, Grinton, B, Vutskits, L, Scheffer, IE, Petrou, S, Dibbens, LM, Berkovic, S & Kaila, K 2014, 'A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation', EMBO Reports, v. 15, no. 6, pp. 723-729. Scheffer, IE, Heron, SE, Regan, B, Mandelstam, S, Crompton, D, Hodgson, B, Licchetta, L, Provini, F, Bisulli, F, Vadlamudi, L, Gecz, J, Connelly, L, Tinuper, P, Ricos, MG, Berkovic, S & Dibbens, LM 2014, 'Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations', Annals of Neurology, v. 75, no. 5, pp. 782-787. Vadlamudi, L, Milne, R, Lawrence, KM, Heron, SE, Eckhaus, J, Keay, D, Connellan, M, Torn-Broers, Y, Howell, R, Mulley, J, Scheffer, IE, Dibbens, LM, Hopper, J & Berkovic, S 2014, 'Genetics of epilepsy The testimony of twins in the molecular era', Neurology, v. 83 no. 12, pp. 1042-1048. Dibbens, LM, De Vries, B, Donatello, S, Heron, SE, Hodgson, B, Scheffer, IE & Iona, X 2013, 'Mutations in DEPDC5 cause familial focal epilepsy with variable foci', Nature Genetics, v. 45, no. 5, pp. 546-551. Gleich, K, Desmond, M, Lee, DD, Berkovic, S, Dibbens, LM, Katerlos, M, Bayly, MA, Fraser, S, Martinello, P, Vears, D, Mount, P & Power, D 2013, 'Abnormal Processing of Autophagosomes in Transformed B Lymphocytes form SCARB2-Deficient Subjects', BioResearch Open Access, v. 2, no. 1. Heron, SE & Dibbens, LM 2013, 'Role of PRRT2 in common paroxysmal neurological disorders: A gene with remarkable pleiotrop', Journal of Medical Genetics, v. 50, no. 3, pp. 133-139. Heron, SE, Ong, YS, Yendle, S, McMahon, JM, Berkovic, S, Scheffer, IE & Dibbens, LM 2013, 'Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies', Epilepsia, v. 54, no. 5, pp. e86-e89. Kim, Y, Dibbens, LM, Marini, C, Suls, A, Chemaly, N, Mei, D, McMahon, J, Iona, X, Berkovic, S, Jonghe, P, Guerrini, R, Nabbout, R & Scheffer, IE 2013, 'Do mutations in SCN1B cause Dravet syndrome?', Epilepsy Research, v. 103, no. 1, pp. 97-100. Klein, KM, Bromhead, C, Smith, K, O'Callaghan, M, Corcoran, S, Heron, SE, Iona, X, Hodgson, B, McMahon, J, Lawrence, KM, Scheffer, IE, Dibbens, LM, Bahlo, M & Berkovic, S 2013, 'Autosomal dominant vasovagal syncope: Clinical features and linkage to chromosome 15q26', Neurology, v. 80, no. 16, pp. 1485-1493. Lomax, LB, Bayly, MA, Hjalgrim, H, M?ller, RS, Dibbens, LM & Berkovic, SF 2013, ''North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation', Brain: a journal of neurology, v. 136, no. 4, pp. 1146-1154.