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Cif, L. and Demailly, D. and Lin, J.-P. and Barwick, K.E. and Sa, M. and Abela, L. and Malhotra, S. and Chong, W.K. and Steel, D. and Sanchis-Juan, A. and Ngoh, A. and Trump, N. and Meyer, E. and Vasques, X. and Rankin, J. and Allain, M.W. and Applegate, C.D. and Attaripour Isfahani, S. and Baleine, J. and Balint, B. and Bassetti, J.A. and Baple, E.L. and Bhatia, K.P. and Blanchet, C. and Burglen, L. and Cambonie, G. and Seng, E.C. and Bastaraud, S.C. and Cyprien, F. and Coubes, C. and d’Hardemare, V. and Doja, A. and Dorison, N. and Doummar, D. and Dy-Hollins, M.E. and Farrelly, E. and Fitzpatrick, D.R. and Fearon, C. and Fieg, E.L. and Fogel, B.L. and Forman, E.B. and Fox, R.G. and Gahl, W.A. and Galosi, S. and Gonzalez, V. and Graves, T.D. and Gregory, A. and Hallett, M. and Hasegawa, H. and Hayflick, S.J. and Hamosh, A. and Hully, M. and Jansen, S. and Jeong, S.Y. and Krier, J.B. and Krystal, S. and Kumar, K.R. and Laurencin, C. and Lee, H. and Lesca, G. and François, L.L. and Lynch, T. and Mahant, N. and Martinez-Agosto, J.A. and Milesi, C. and Mills, K.A. and Mondain, M. and Morales-Briceno, H. and Ostergaard, J.R and Pal, S. and Pallais, J.C. and Pavillard, F. and Perrigault, P.-F. and Petersen, A.K. and Polo, G. and Poulen, G. and Rinne, T. and Roujeau, T. and Rogers, C. and Roubertie, A. and Sahagian, M. and Schaefer, E. and Selim, L. and Selway, R. and Sharma, N. and Signer, R. and Soldatos, A.G. and Stevenson, D.A. and Stewart, F. and Tchan, M. and Verma, I.C. and de Vries, B.B.A and Wilson, J.L. and Wong, D.A. and Zaitoun, R. and Zhen, D. and Znaczko, A. and Dale, R.C. and de Gusmão, C.M. and Friedman, J. and Fung, V.S.C. and King, M.D. and Mohammad, S.S and Rohena, L. and Waugh, J.L. and Toro, C. and Raymond, F.L. and Topf, Maya and Coubes, P. and Gorman, K.M. and Kurian, M.A. (2020) KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143 (11), pp. 3242-3261. ISSN 0006-8950.

Carecchio, Miryam and Invernizzi, F. and Gonzàlez-Latapi, P. and Panteghini, C. and Zorzi, G. and Romito, L. and Leuzzi, V. and Galosi, S. and Reale, C. and Zibordi, F. and Joseph, A.P. and Topf, Maya and Piano, C. and Bentivoglio, A.R. and Girotti, F. and Morana, P. and Morana, B. and Kurian, M.A. and Garavaglia, B. and Mencacci, N.E. and Lubbe, S.J. and Nardocci, N. (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study. Movement Disorders 34 (10), pp. 1516-1527. ISSN 0885-3185.

McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. and Cross, J.H. and Topf, Maya and Petrou, S. and Kurian, M.A. (2018) Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy. Neurology 90 (1), ISSN 0028-3878.

McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. "Kling" and Cross, H.K. and Topf, Maya and Petrou, S. and Kurian, M.A. (2017) Clinical and molecular characterisation of KCNT1-related severe early onset epilepsy. Neurology 90 (1), ISSN 0028-3878.

Meyer, E. and Carss, K.J and Rankin, J. and Nichols, J.M.E and Grozeva, D. and Joseph, A.P and Mencacci, N.E. and Papandreou, A. and Ng, J. and Barral, S. and Ngoh, A. and Ben-Pazi, H. and Willemsen, M.A. and Arkadir, D. and Barnicoat, A. and Bergman, H. and Bhate, S. and Boys, A. and Darin, N. and Foulds, N. and Gutowski, N. and Hills, A. and Houlden, H. and Hurst, J.A. and Israel, Z. and Kaminska, M. and Limousin, P. and Lumsden, D. and McKee, S. and Misra, S. and Mohammed, S.S. and Nakou, V. and Nicolai, J. and Nilsson, M. and Pall, H. and Peall, K.J. and Peters, G.B. and Prabhakar, P. and Reuter, M.S. and Rump, P. and Segel, R. and Sinnema, M. and Smith, M. and Turnpenny, P. and White, S.M. and Wieczorek, D. and Wiethoff, S. and Wilson, B.T. and Winter, G. and Wragg, C. and Pope, S. and Heales, S.J.H. and Morrogh, D. and Pittman, A. and Carr, L. J. and Perez-Dueñas, B. and Lin, J.-P. and Reis, A. and Gahl, W.A. and Toro, C. and Bhatia, K.P. and Wood, N.W. and Kamsteeg, E.-J. and Chong, W.K. and Gissen, P. and Topf, Maya and Dale, R.C. and Chubb, J.R. and Raymond, F.L. and Kurian, M.A. (2016) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49 , pp. 223-237. ISSN 1061-4036.

Stödberg, T. and McTague, A. and Ruiz, A.J. and Hirata, H. and Zhen, J. and Long, P. and Farabella, Irene and Meyer, E. and Kawahara, A. and Vassallo, G. and Stivaros, S.M. and Bjursell, M.K. and Stranneheim, H. and Tigerschiöld, S. and Persson, B. and Bangash, I. and Das, K. and Hughes, D. and Lesko, N. and Lundeberg, J. and Scott, R.C. and Poduri, A. and Scheffer, I.E. and Smith, H. and Gissen, P. and Schorge, S. and Reith, M.E.A. and Topf, Maya and Kullmann, D.M. and Harvey, R.J. and Wedell, A. and Kurian, M.A. (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature Communications 6 , p. 8038. ISSN 2041-1723.