Photo of Anna-Elina Lehesjoki

Anna-Elina Lehesjoki

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

1994 …2020

Research output per year

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Publications

2020

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A-K., Tyynismaa, H., Carolina, C. & Anna-Elina, L., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 7 p., 103766.

Research output: Contribution to journalArticleScientificpeer-review

2019

Diagnostic implications of genetic copy number variation in epilepsy plus

EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Coppola, A., Cellini, E., Saarentaus, E., Palotie, A., Lehesjioki, A-E. & von Spiczak, S., Apr 2019, In : Epilepsia. 60, 4, p. 689-706 18 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic heterogeneity in infantile spasms

EuroEPINOMICS-RES NLES Working Grp, Muir, A. M., Myers, C. T., Nguyen, N. T., Lehesjoki, A-E. & Mefford, H. C., Oct 2019, In : Epilepsy Research. 156, 5 p., 106181.

Research output: Contribution to journalArticleScientificpeer-review

Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease

Tyynelä, J. & Lehesjoki, A-E., Jan 2019, In : Brain : a journal of neurology. 142, p. 2-5 4 p.

Research output: Contribution to journalEditorialScientific

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

Open Access
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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

Open Access
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2018

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

EuroEPINOMICS Rare Epilepsy Syndro, Carvill, G. L. & Lehesjoki, A-E., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 1022-1029 8 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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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Int League Against Epilepsy Conso, Abou-Khalil, B., Eriksson, J. G., Lehesjoki, A-E. & Palotie, A., 10 Dec 2018, In : Nature Communications. 9, 15 p., 5269.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Inflammasomigeeni NLRP3:n mutaatio aiheuttaa periytyvän sarveiskalvotulehduksen

Turunen, J., Wedenoja, J., Repo, P., Järvinen, R-S., Jäntti, J. E., Mörtenhumer, S., Riikonen, A. S., Lehesjoki, A-E., Majander, A. & Kivelä, T., 2018, In : Duodecim. 134, 7, p. 748 1 p.

Research output: Contribution to journalArticleProfessional

Open Access
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Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

Turunen, J. A., Wedenoja, J., Repo, P., Järvinen, R-S., Jäntti, J. E., Mörtenhumer, S., Riikonen, A. S., Lehesjoki, A-E., Majander, A. & Kivelä, T. T., Apr 2018, In : American Journal of Ophthalmology. 188, p. 41-50 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

Knuutinen, O., Kousi, M., Suo-Palosaari, M., Moilanen, J. S., Tuominen, H., Vainionpää, L., Joensuu, T., Anttonen, A-K., Uusimaa, J., Lehesjoki, A-E. & Vieira, P., Aug 2018, In : Neuropediatrics. 49, 4, p. 256-261 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study

EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium, Aug 2018, In : Lancet Neurology. 17, 8, p. 699-708 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Rare gene deletions in genetic generalized and Rolandic epilepsies

EuroEPINOMICS CoGIE Consortium, 27 Aug 2018, In : PLoS One. 13, 8, 23 p., 0202022.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Smith, R. S., Kenny, C. J., Ganesh, V., Jang, A., Borges-Monroy, R., Partlow, J. N., Hill, R. S., Shin, T., Chen, A. Y., Doan, R. N., Anttonen, A-K., Ignatius, J., Medne, L., Bönnemann, C. G., Hecht, J. L., Salonen, O., Barkovich, A. J., Poduri, A., Wilke, M., de Wit, M. C. Y. & 9 others, Mancini, G. M. S., Sztriha, L., Im, K., Amrom, D., Andermann, E., Paetau, R., Lehesjoki, A-E., Walsh, C. A. & Lehtinen, M. K., 5 Sep 2018, In : Neuron. 99, 5, p. 905-+ 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2017

Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., EuroEPINOMICS CoGIE Consortium, Palotie, A., Lehesjoki, A-E., Genetic Commission Italian, Moyanova, S., Ngomba, R. T., van Luijtelaar, G., Battaglia, G., Bruno, V., Striano, P. & 1 others, Nicoletti, F., Nov 2017, In : Epilepsia. 58, 11, p. 1993-2001 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Allen, A. S., Berkovic, S. F., Bridgers, J., Cossette, P., Dlugos, D., Epstein, M. P., Glauser, T., Goldstein, D. B., Heinzen, E. L., Jiang, Y., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A. & 34 others, Ren, Z., Scheffer, I. E., Sherr, E., Wang, Q., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jaehn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., Leguern, E., Lehesjoki, A-E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Moller, R. S., Muhle, H., Palotie, A., Epi4K Consortium, Epi4K Consortium, EuroEPINOMICS- RES Consortium & Epilepsy Phenome Genome Project, Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 894-899 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, K., Yuan, H., Schuetz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H. O., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., Adams, D. J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Stromme, P., Biskup, S., Doecker, D. & 55 others, Strom, T. M., Mefford, H. C., Myers, C. T., Muir, A. M., LaCroix, A., Sadleir, L., Scheffer, I. E., Brilstra, E., van Haelst, M. M., van der Smagt, J. J., Bok, L. A., Moller, R. S., Jensen, U. B., Millichap, J. J., Berg, A. T., Goldberg, E. M., De Bie, I., Fox, S., Major, P., Jones, J. R., Zackai, E. H., Abou Jamra, R., Rolfs, A., Leventer, R. J., Lawson, J. A., Roscioli, T., Jansen, F. E., Ranza, E., Korff, C. M., Lehesjoki, A-E., Courage, C., Linnankivi, T., Smith, D. R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W-H., Tarnopolsky, M. A., Brady, L. I., Wolff, M., Dondit, L., Pedro, H. F., Parisotto, S. E., Jones, K. L., Patel, A. D., Franz, D. N., Vanzo, R., Marco, E., Ranells, J. D., Di Donato, N., Dobyns, W. B., Laube, B., Traynelis, S. F. & Lemke, J. R., Jul 2017, In : Journal of Medical Genetics. 54, 7, p. 460-470 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A

Ozkara, C., Gunduz, A., Coskun, T., Alpaslan, B. G., Zeydan, B., Delil, S., Muona, M., Lehesjoki, A-E. & Kiziltan, M. E., Jun 2017, In : Epileptic Disorders. 19, 2, p. 147-151 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties

Oliver, K. L., Franceschetti, S., Milligan, C. J., Muona, M., Mandelstam, S. A., Canafoglia, L., Boguszewska-Chachulska, A. M., Korczyn, A. D., Bisulli, F., Di Bonaventura, C., Ragona, F., Michelucci, R., Ben-Zeev, B., Straussberg, R., Panzica, F., Massano, J., Friedman, D., Crespel, A., Engelsen, B. A., Andermann, F. & 20 others, Andermann, E., Spodar, K., Lasek-Bal, A., Riguzzi, P., Pasini, E., Tinuper, P., Licchetta, L., Gardella, E., Lindenau, M., Wulf, A., Moller, R. S., Benninger, F., Afawi, Z., Rubboli, G., Reid, C. A., Maljevic, S., Lerche, H., Lehesjoki, A-E., Petrou, S. & Berkovic, S. F., May 2017, In : Annals of Neurology. 81, 5, p. 677-689 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Anttonen, A-K. & Lehesjoki, A-E., Aug 2017, In : Brain : a journal of neurology. 140, p. E50-+ 2 p.

Research output: Contribution to journalArticleScientific

Open Access

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anttonen, A-K., Laari, A., Kousi, M., Yang, Y. J., Jääskeläinen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lönnqvist, T., Pihko, H., Valanne, L., Paetau, A., Lun, M. P., Hästbacka, J., Kopra, O., Joensuu, T., Katsanis, N., Lehtinen, M. K. & 2 others, Palvimo, J. J. & Lehesjoki, A-E., May 2017, In : Brain : a journal of neurology. 140, p. 1267-1279 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2016

A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia

Helbig, K. L., Hedrich, U. B. S., Shinde, D. N., Krey, I., Teichmann, A-C., Hentschel, J., Schubert, J., Chamberlin, A. C., Huether, R., Lu, H-M., Alcaraz, W. A., Tang, S., Jungbluth, C., Dugan, S. L., Vainionpaa, L., Karle, K. N., Synofzik, M., Schols, L., Schule, R., Lehesjoki, A-E. & 3 others, Helbig, I., Lerche, H. & Lemke, J. R., Oct 2016, In : Annals of Neurology. 80, 4, p. 638-642 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

Turunen, J. A., Markkinen, S., Wilska, R., Saarinen, S., Raivio, V., Tall, M., Lehesjoki, A-E. & Kivela, T. T., May 2016, In : Ophthalmology. 123, 5, p. 1112-1117 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Muona, M., Ishimura, R., Laari, A., Ichimura, Y., Linnankivi, T., Keski-Filppula, R., Herva, R., Rantala, H., Paetau, A., Pöyhönen, M., Obata, M., Uemura, T., Karhu, T., Bizen, N., Takebayashi, H., McKee, S., Parker, M. J., Akawi, N., McRae, J., Hurles, M. E. & 9 others, Kuismin, O., Kurki, M. I., Anttonen, A-K., Tanaka, K., Palotie, A., Waguri, S., Lehesjoki, A-E., Komatsus, M. & DDD Study, 1 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 683-694 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Brain inflammation is accompanied by peripheral inflammation in Cstb(-/-) mice, a model for progressive myoclonus epilepsy

Okuneva, O., Li, Z., Korber, I., Tegelberg, S., Joensuu, T., Tian, L. & Lehesjoki, A-E., 28 Nov 2016, In : Journal of Neuroinflammation. 13, 10 p., 298.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Ylikallio, E., Auranen, M., Mahjneh, I., Lamminen, A., Kousi, M., Träskelin, A-L., Muurinen, T., Löfberg, M., Salmi, T., Paetau, A., Lehesjoki, A-E., Piirilä, P. & Kiuru-Enari, S., 29 Nov 2016, In : Journal of Neuromuscular Diseases. 3, 4, p. 475-485 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Muona, M., Fukata, Y., Anttonen, A-K., Laari, A., Palotie, A., Pihko, H., Lönnqvist, T., Valanne, L., Somer, M., Fukata, M. & Lehesjoki, A-E., 2016, In : Neurology Genetics. 2, 1, 8 p., e46.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Lal, D., Reinthaler, E. M., Dejanovici, B., May, P., Thiele, H., Lehesjoki, A-E., Schwarz, G., Riesch, E., Ikram, M. A., van Duijn, C. M., Uitterlinden, A. G., Hofman, A., Steinboeck, H., Gruber-Sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y. G. & 12 others, Cilio, M. R., Kunz, W. S., Krause, R., Zimprich, F., Lemke, J. R., Nuernberg, P., Sander, T., Lerche, H., Neubauer, B. A., Genetic Comm Italian League Agains, EuroEPINOMICS CoGIE Consortium & Palotie, A., 18 Mar 2016, In : PLoS One. 11, 3, 14 p., 0150426.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb(-/-) Microglia

Korber, I., Katayama, S., Einarsdottir, E., Krjutskov, K., Hakala, P., Kere, J., Lehesjoki, A-E. & Joensuu, T., 29 Jun 2016, In : PLoS One. 11, 6, 19 p., 0158195.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Mignot, C., von Stuelpnagel, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Yis, U., Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C. & 26 others, Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hörtnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., EuroEPINOMICS-RES MAE Working Grp & Lehesjoki, A-E., Aug 2016, In : Journal of Medical Genetics. 53, 8, p. 511-522 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

Gaily, E., Lommi, M., Lapatto, R. & Lehesjoki, A-E., Oct 2016, In : Epilepsia. 57, 10, p. 1594-1601 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

Schwarz, N., Hahn, A., Bast, T., Mueller, S., Loeffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., Lehesjoki, A. -E., Neubauer, B. A., Lerche, H. & Hedrich, U. B. S., Feb 2016, In : Journal of Neurology. 263, 2, p. 334-343 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Pitfalls in genetic testing: the story of missed SCN1A mutations

Djémié, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A-K., Brilstra, E., Caglayan, H. S., de Kovel, C. G., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-López, R., Guerrini, R., Hämäläinen, E., Hartmann, C., Hernandez-Hernandez, L., Hjalgrim, H. & 26 others, Koeleman, B. P. C., Leguern, E., Lehesjoki, A-E., Lemke, J. R., Leu, C., Marini, C., McMahon, J. M., Mei, D., Møller, R. S., Myers, C. T., Nava, C., Serratosa, J. M., Sisodiya, S. M., Stephani, U., Striano, P., van Kempen, M. J. A., Verbeek, N. E., Usluer, S., Zara, F., Palotie, A., Meffiord, H. C., Scheffer, I. E., De Jonghe, P., Helbig, I., Suls, A. & EuroEPINOMICS-RES Dravet working group, 2016, In : Molecular Genetics & Genomic Medicine. 4, 4 , p. 457-464 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Progressive myoclonus epilepsy associated with SACS gene mutations

Nascimento, F. A., Canafoglia, L., Aljaafari, D., Muona, M. S., Lehesjoki, A-E., Berkovic, S. F., Franceschetti, S. & Andrade, D. M., 2016, In : Neurology Genetics. 2, 4 , 3 p., e83 .

Research output: Contribution to journalArticleScientificpeer-review

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

Mäkitie, R. E., Haanpaa, M., Valta, H., Pekkinen, M., Laine, C. M., Lehesjoki, A-E., Schalin-Jantti, C. & Makitie, O., Sep 2016, In : Journal of Bone and Mineral Research. 31, 9, p. 1734-1742 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel, C. G. F., Brilstra, E. H., van Kempen, M. J. A., van't Slot, R., Nijman, I. J., Afawi, Z., De Jonghe, P., Djémié, T., Guerrini, R., Hardies, K., Helbig, I., Henrickx, R., Kanaan, M., Kramer, U., Lehesjoki, A-E., Lemke, J. R., Marini, C., Mei, D., Møller, R. S., Pendzwiat, M. & 5 others, Stamberger, H., Suls, A., Weckhuysen, S., Koeleman, B. P. C. & EuroEPINOMICS RES CONSORTIUM, 2016, In : Molecular Genetics and Genomics. 4, 5, p. 568-580 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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TRIM37 and Mulibrey nanism

Kettunen, K., Karlberg, N., Karlberg, S., Jalanko, H., Lipsanen-Nyman, M. & Lehesjoki, A-E., Mar 2016, Epstein's Inborn errors of development: the molecular basis of clinical disorders of morphogenesis. Ericson, R. P. & Wynshaw-Boris, A. J. (eds.). 3. p. ed. New York: Oxford University Press, p. 1413-1416 4 p. (Oxford monographs on medical genetics).

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

Kettunen, K. M., Karikoski, R., Hamalainen, R. H., Toivonen, T. T., Antonenkov, V. D., Kulesskaya, N., Voikar, V., Holtta-Vuori, M., Ikonen, E., Sainio, K., Jalanko, A., Karlberg, S., Karlberg, N., Lipsanen-Nyman, M., Toppari, J., Jauhiainen, M., Hiltunen, J. K., Jalanko, H. & Lehesjoki, A-E., 15 May 2016, In : Biology open. 5, 5, p. 584-595 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2015

Abnormal Microglial Activation in the Cstb(-/-) Mouse, A Model for Progressive Myoclonus Epilepsy, EPM1

Okuneva, O., Korber, I., Li, Z., Tian, L., Joensuu, T., Kopra, O. & Lehesjoki, A-E., Mar 2015, In : Glia. 63, 3, p. 400-411 12 p.

Research output: Contribution to journalArticleScientificpeer-review

A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis

Laine, C. M., Wessman, M., Toiviainen-Salo, S., Kaunisto, M. A., Mayranpaa, M. K., Laine, T., Pekkinen, M., Kroger, H., Valimaki, V-V., Valimaki, M. J., Lehesjoki, A-E. & Makitie, O., Mar 2015, In : Journal of Bone and Mineral Research. 30, 3, p. 437-445 9 p.

Research output: Contribution to journalArticleScientificpeer-review

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I. E., Criscuolo, C. & 31 others, Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A. & Lehesjoki, A-E., 1 Jan 2015, In : Nature Genetics. 47, 1, p. 39+ 11 p.

Research output: Contribution to journalArticleScientificpeer-review

CHD2 variants are a risk factor for photosensitivity in epilepsy

Galizia, E. C., Myers, C. T., Leu, C., de Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A-K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A-E., Nuernberg, P. & 28 others, Lerche, H., Palotie, A., Coppola, A., Striano, S., Del Gaudio, L., Boustred, C., Schneider, A. L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L. G., Mullen, S. A., Berkovic, S. F., Stephani, U., Helbig, I., Crawford, A. D., Esguerra, C. V., Trenite, D. G. A. K-N., Koeleman, B. P. C., Mefford, H. C., Scheffer, I. E., Sisodiya, S. M. & EuroEPINOMICS CoGIE Consortium, 1 May 2015, In : Brain : a journal of neurology. 138, p. 1198-1207 10 p.

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Syrbe, S., Hedrich, U. B. S., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H. S., Arslan, M., Serratosa, J. M., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G. & 30 others, Schoels, L., Mullis, P. E., Linnankivi, T., Lehesjoki, A-E., Sterbova, K., Craiu, D. C., Hoffman-Zacharska, D., Korff, C. M., Weber, Y. G., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M. K., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schule, R., Sisodiya, S. M., Weckhuysen, S., Lerche, H., Lemke, J. R. & EuroEPINOMICS RES Consortium, Apr 2015, In : Nature Genetics. 47, 4, p. 393-U155 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Etenevän epilepsian geenitausta tarkentuu

Muona, M. & Lehesjoki, A-E., Jan 2015, In : Duodecim. 131, 1, p. 87-88 2 p.

Research output: Contribution to journalArticleScientific

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

Manninen, O., Puolakkainen, T., Lehto, J., Harittu, E., Kallonen, A., Peura, M., Laitala-Leinonen, T., Kopra, O., Kiviranta, R. & Lehesjoki, A-E., 2015, In : Bone Reports. 3, p. 76-82 7 p.

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Investigation of GRIN2A in common epilepsy phenotypes

Lal, D., Steinbruecker, S., Schubert, J., Sander, T., Becker, F., Weber, Y., Lerche, H., Thiele, H., Krause, R., Lehesjoki, A-E., Nuernberg, P., Palotie, A., Neubauer, B. A., Muhle, H., Stephani, U., Helbig, I., Becker, A. J., Schoch, S., Hansen, J., Dorn, T. & 6 others, Hohl, C., Luescher, N., von Spiczak, S., Lemke, J. R., Epicure Consortium & EuroEPINOMICS-CoGIE Consortium, Sep 2015, In : Epilepsy Research. 115, p. 95-99 5 p.

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Mouse Model of Unverricht-Lundborg Disease

Kopra, O., Joensuu, T. & Lehesjoki, A-E., 2015, Movement Disorders: Genetics and Models. LeDoux, MS. (ed.). 2nd ed. ed. London: Academic Press, p. 671-679 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Damiano, J. A., Afawi, Z., Bahlo, M., Mauermann, M., Misk, A., Arsov, T., Oliver, K. L., Dahl, H-H. M., Shearer, A. E., Smith, R. J. H., Hall, N. E., Mahmood, K., Leventer, R. J., Scheffer, I. E., Muona, M., Lehesjoki, A-E., Korczyn, A. D., Herrmann, H., Berkovic, S. F. & Hildebrand, M. S., 15 Aug 2015, In : Human Molecular Genetics. 24, 16, p. 4483-4490 8 p.

Research output: Contribution to journalArticleScientificpeer-review