Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Amrom, D., Tanyalcin, I., Verhelst, H., Deconinck, N., Brouhard, G., Decarie, J-C., Vanderhasselt, T., Das, S., Hamdan, F. F., Lissens, W., Michaud, J., Jansen, A. & Hayden, M. R. (ed.), Feb 2014, In : Clinical Genetics. 85, p. 178-183 6 p.

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Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex

Jansen, A., Baxter, P. (ed.), Dan, B. (ed.) & Rosenbaum, P. (ed.), 2014, In : Developmental Medicine & Child Neurology. 56, p. 1134-1135 2 p.

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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Fieremans, N., Bauters, M., Belet, S., Verbeeck, J., Jansen, A., Seneca, S., Roelens, F., De Baere, E., Marynen, P. & Froyen, G., 2014, In : Human Genetics. 133, 11, p. 1359-1367 9 p.

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Polymicrogyria: pathology, fetal origins and mechanisms

Squier, W. & Jansen, A., 2014, In : Acta Neuropathologica Communications. 2, p. 80-80

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PRRT2 mutations: exploring the phenotypical boundaries

Djemie, T., Weckhuysen, S., Holmgren, P., Hardies, K., Van Dyck, T., Hendrickx, R., Schoonjans, A-S., Van Paesschen, W., Jansen, A., De Meirleir, L., Abdel Moteleb Selim, L., Girgis, M. Y., Buyse, G., Lagae, L., Smets, K., Smouts, I., Claeys, K. G., Van Den Bergh, V., Grisar, T., Blatt, I. & 7 othersShorer, Z., Roelens, F., Afawi, Z., Helbig, I., Ceulemans, B., De Jonghe, P. & Suls, A., 2014, In : Journal of Neurology, Neurosurgery and Psychiatry. 85, p. 462-465 4 p.

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Recommendations for the treatment of epilepsy in adult patients in general practice in Belgium: an update

Boon, P., Engelborghs, S., Hauman, H., Jansen, A., Legros, B., Ossemann, M., Sadzot, B., Smets, K., Urbain, E. & Van Rijckevorsel, K., 2014, In : Acta Neurol Belgica. 112, p. 119-132 14 p.

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Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquiredmicrocephaly, trigonocephaly, and intellectual developmental disorder: A case report and review of literature

De Bruyn, C., Vanderhasselt, T., Tanyalcin, I., Keymolen, K., Van Rompaey, K., De Meirleir, L., Jansen, A. & Lagae, L. (ed.), 2014, In : European Journal of Paediatric Neurology. 18, p. 420-426 7 p.

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TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

Kingswood, J., Bruzzi, P., Curatolo, P., De Vries, P., Fladrowski, C., Hertzberg, C., Jansen, A., Jozwiak, S., Nabbout, R., Sauter, M., Touraine, R., O'callaghan, F., Zonnenberg, B., Crippa, S., Comis, S., Beaure D'augeres, G., Belousova, E., Carter, T., Cottin, V., Dahlin, M. & 8 othersFerreira, J. C., Macaya, A., Perkovic Benedik, M., Sander, V., Youroukos, S., Castellana, R., Ulker, B. & Feucht, M., 2014, In : Orphanet J Rare Dis. 9, p. 182-182

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Mutation spectrum in RAB3GAP1, RAB3GAP2 and RAB18 and Genotype-Phenotype Correlations in Warburg Micro syndrome and Martsolf syndrome

Handley, M., Morris-Rosendahl, D., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., Pinelli, L., Basellll-Vanagaiiiite, L., Peretz, G., Abdel-Salam, G., Zaki, M., Jansen, A., Mowat, D., Glass, I. & 14 othersStewart, H., Mancini, G., Lederer, D., Roscioli, T., Giuliano, F., Plomp, A., Rolfs, A., Graham, J., Seemanova, E., Jackson, I., Maher, E., Aligianis, I., Cotton, R. G. H. (ed.) & Cutting, G. R. (ed.), Feb 2013, In : Human Mutation. 34, 5, p. 686-696 11 p.

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