20002019
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International and National Collaboration Publications and projects within past five years.

Publications 2000 2019

  • 31 Article
  • 1 Conference article
  • 1 Review Article

The spectrum of intermediate SCN8A-related epilepsy

Johannesen, K. M., Gardena, E., Encinas, A. C., Lehesjoki, A-E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Burki, S., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Bruenger, T., Zara, F., Striano, P., Rohholi, G. & Moller, R. S., May 2019, In : Epilepsia. 60, 5, p. 830-844 15 p.

Research output: Contribution to journalArticleScientificpeer-review

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Epi25 Collaborative, Genomic Psychiat Cohort GPC Consor, Feng, Y-C. A., Howrigan, D. P., Heyne, H., Linnankivi, T., Lehesjoki, A-E., Palotie, A., Daly, M. J. & Neale, B. M., Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 267-282 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A-E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M-T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W-H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 30 others, Chae, J-H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Helbig, I. & Rubboli, G., Feb 2018, In : Epilepsia. 59, 2, p. 389-402 14 p.

Research output: Contribution to journalArticleScientificpeer-review

De novo variants in neurodevelopmental disorders with epilepsy

EuroEPINOMICS- RES Consortium, Heyne, H. O., Linnankivi, T., Palotie, A., Daly, M. J. & Lehesjoki, A-E., Jul 2018, In : Nature Genetics. 50, 7, p. 1048-1058 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Kannabidioli epilepsian hoidossa

Metsähonkala, E-L. & Linnankivi, T., 2018, In : Suomen lääkärilehti. 73, 50-52, p. 3007-3010 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review