Anna-Elina Lehesjoki

Publications

Research output per year 1994 2005 2006 2009 2010 2012 2013 2014 2015 2016 2018 2019 2020 2023

• 180 Article
• 9 Chapter
• 4 Review Article
• 1 Conference article
• 2 More
  • 1 Editorial
  • 1 Letter

Research output per year

Research output per year

Search results

• 2023

  Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice

  Gorski, K., Jackson, C. B. B., Nyman, T. A., Rezov, V., Battersby, B. J. & Lehesjoki, A-E., 12 May 2023, In: Frontiers in Molecular Neuroscience. 16, 12 p., 1175851.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2022

  Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

  Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R. & Lehesjoki, A-E., Mar 2022, In: Epilepsia. 63, 3, p. 723-735 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

  van der Knoop, M. M., Maroofian, R., Fukata, Y., van Ierland, Y., Karimiani, E. G., Lehesjoki, A. E., Muona, M., Paetau, A., Miyazaki, Y., Hirano, Y., Selim, L., de Franca, M., Fock, R. A., Beetz, C., Ruivenkamp, C. A. L., Eaton, A. J., Morneau-Jacob, F. D., Sagi-Dain, L., Shemer-Meiri, L., Peleg, A., & 28 othersHaddad-Halloun, J., Kamphuis, D. J., Peeters-Scholte, C. M. P. C. D., Kurul, S. H., Horvath, R., Lochmueller, H., Murphy, D., Waldmueller, S., Spranger, S., Overberg, D., Muir, A. M., Rad, A., Vona, B., Abdulwahad, F., Maddirevula, S., Povolotskaya, I. S., Voinova, V. Y., Gowda, V. K., Srinivasan, V. M., Alkuraya, F. S., Mefford, H. C., Alfadhel, M., Haack, T. B., Striano, P., Severino, M., Fukata, M., Hilhorst-Hofstee, Y. & Houlden, H., 29 Jul 2022, In: Brain : a journal of neurology. 145, 7, p. 2301-2312 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity

  Daura, E., Tegelberg, S., Hakala, P., Lehesjoki, A-E. & Joensuu, T., 30 Nov 2022, In: Frontiers in Molecular Neuroscience. 15, 13 p., 1069122.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

  Nuottamo, M. E., Häppölä, P., Artto, V., Hautakangas, H., Pirinen, M., Hiekkalinna, T., Ellonen, P., Lepistö, M., Hämäläinen, E., Siren, A., Lehesjoki, A-E., Kallela, M., Palotie, A., Kaunisto, M. A. & Wessman, M., Jun 2022, In: Cephalalgia. 42, 7, p. 631-644 14 p., 03331024211068065.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2021

  CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

  Zarate, Y. A., Uehara, T., Abe, K., Oginuma, M., Harako, S., Ishitani, S., Lehesjoki, A-E., Bierhals, T., Kloth, K., Ehmke, N., Horn, D., Holtgrewe, M., Anderson, K., Viskochil, D., Edgar-Zarate, C. L., Sacoto, M. J. G., Schnur, R. E., Morrow, M. M., Sanchez-Valle, A., Pappas, J., & 14 othersRabin, R., Muona, M., Anttonen, A-K., Platzer, K., Luppe, J., Gburek-Augustat, J., Kaname, T., Okamoto, N., Mizuno, S., Kaido, Y., Ohkuma, Y., Hirose, Y., Ishitani, T. & Kosaki, K., Jun 2021, In: Genetics In medicine. 23, 6, p. 1050-1057 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis

  Daura, E., Tegelberg, S., Yoshihara, M., Jackson, C., Simonetti, F., Aksentjeff, K., Ezer, S., Hakala, P., Katayama, S., Kere, J., Lehesjoki, A-E. & Joensuu, T., Aug 2021, In: Neurobiology of Disease. 156, 13 p., 105418.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

  Canafoglia, L., Franceschetti, S., Gambardella, A., Striano, P., Giallonardo, A. T., Tinuper, P., Di Bonaventura, C., Michelucci, R., Ferlazzo, E., Granata, T., Magaudda, A., Licchetta, L., Filla, A., La Neve, A., Riguzzi, P., Cantisani, T. A., Fanella, M., Castellotti, B., Gellera, C., Bahlo, M., & 5 othersZara, F., Courage, C., Lehesjoki, A-E., Oliver, K. L. & Berkovic, S. F., Dec 2021, In: Neurology Genetics. 7, 6, 6 p., 641.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

  Courage, C., Oliver, K. L., Park, E. J., Cameron, J. M., Grabinska, K. A., Muona, M., Canafoglia, L., Gambardella, A., Said, E., Afawi, Z., Baykan, B., Brandt, C., di Bonaventura, C., Chew, H. B., Criscuolo, C., Dibbens, L. M., Castellotti, B., Riguzzi, P., Labate, A., Filla, A., & 19 othersGiallonardo, A. T., Berecki, G., Jackson, C. B., Joensuu, T., Damiano, J. A., Kivity, S., Korczyn, A., Palotie, A., Striano, P., Uccellini, D., Giuliano, L., Andermann, E., Scheffer, I. E., Michelucci, R., Bahlo, M., Franceschetti, S., Sessa, W. C., Berkovic, S. F. & Lehesjoki, A-E., 1 Apr 2021, In: American Journal of Human Genetics. 108, 4, p. 722-738 17 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

  Mazzola, L., Oliver, K. L., Labalme, A., Baykan, B., Muona, M., Joensuu, T. H., Courage, C., Chatron, N., Borsani, G., Alix, E., Ramond, F., Touraine, R., Bahlo, M., Bebek, N., Berkovic, S. F., Lehesjoki, A-E. & Lesca, G., Feb 2021, In: Annals of Neurology. 89, 2, p. 402-407 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

  Italian Undiagnosed Dis Network, V-ATPase Consortium, Bott, L. C., Forouhan, M., Lieto, M., Muona, M., Courage, C., Lehesjoki, A-E. & Rinaldi, C., 1 Oct 2021, In: Brain communications. 3, 4, 14 p., 245.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2020

  Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

  Project MinE ALS GWAS Consortium I, Schijven, D., Stevelink, R., McCormack, M., van Rheenen, W., Luykx, J. J., Koeleman, B. P. C., Veldink, J. H., Eriksson, J. G., Kälviäinen, R., Kantanen, A-M., Lehesjoki, A-E. & Palotie, A., Aug 2020, In: Neurobiology of Aging. 92, p. 153.e1-153.e5 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 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., Courage, C. & Lehesjoki, A-E., Mar 2020, In: European Journal of Medical Genetics. 63, 3, 7 p., 103766.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

  Epi25 Collaborative, Niestroj, L-M., Perez-Palma, E., Howrigan, D. P., Saarentaus, E., Daly, M. J., Palotie, A., Lal, D. & Lehesjoki, A-E., Jul 2020, In: Brain : a journal of neurology. 143, 7, p. 2106-2118 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

  EuroEPINOMICS-RES Consortium, Lal, D., May, P., Perez-Palma, E., Kurki, M., Palotie, A., Daly, M. J. & Lehesjoki, A-E., 17 Mar 2020, In: Genome medicine. 12, 1, 12 p., 28.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype

  Knuutinen, O., Pyle, A., Suo-Palosaari, M., Duff, J., Froukh, T., Lehesjoki, A-E., Kangas, S. M., Cassidy, J., Maraqa, L., Keski-Filppula, R., Kokkonen, H., Uusimaa, J., Horvath, R. & Vieira, P., Nov 2020, In: Clinical Genetics. 98, 5, p. 493-498 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Microglial phagocytosis dysfunction in the dentate gyrus is related to local neuronal activity in a genetic model of epilepsy

  Sierra-Torre, V., Plaza-Zabala, A., Bonifazi, P., Abiega, O., Diaz-Aparicio, I., Tegelberg, S., Lehesjoki, A-E., Valero, J. & Sierra, A., Nov 2020, In: Epilepsia. 61, 11, p. 2593-2608 16 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

  EuroEPINOMICS-RES Consortium, Tang, S., Addis, L., Smith, A., Pal, D. K. & Lehesjoki, A-E., May 2020, In: Epilepsia. 61, 5, p. 995-1007 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice

  Gorski, K., Spoljaric, A., Nyman, T. A., Kaila, K., Battersby, B. J. & Lehesjoki, A-E., 13 Nov 2020, In: Frontiers in Molecular Neuroscience. 13, 13 p., 570640.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2019

  A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

  EuroEPINOMICS-RES Consortium, GRIN Consortium, Helbig, I., Lopez-Hernandez, T., Shor, O., Lehesjoki, A-E., Linnankivi, T. & Palotie, A., 6 Jun 2019, In: American Journal of Human Genetics. 104, 6, p. 1060-1072 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

  Int League Against Epilepsy Consor, Stevelink, R., Pangilinan, F., Jansen, F. E., Eriksson, J. G., Kälviäinen, R., Kantanen, A-M., Lehesjoki, A-E. & Palotie, A., Dec 2019, In: Molecular Genetics and Metabolism Reports. 21, 6 p., 100518.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review

  Open Access

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• Polygenic burden in focal and generalized epilepsies

  Epi25 Consortium, Leu, C., Stevelink, R., Palotie, A., Daly, M. J. & Lehesjoki, A-E., Nov 2019, In: Brain : a journal of neurology. 142, p. 3473-3481 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 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 othersRumple, 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 othersChae, 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Professional

  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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 othersMancini, 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 journal › Article › Scientific › peer-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 othersNicoletti, F., Nov 2017, In: Epilepsia. 58, 11, p. 1993-2001 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-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 othersRen, 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 journal › Article › Scientific › peer-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 othersStrom, 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 journal › Article › Scientific › peer-review

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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 journal › Article › Scientific › peer-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 othersAndermann, 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 journal › Article › Scientific › peer-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 journal › Article › Scientific

  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 othersPalvimo, J. J. & Lehesjoki, A-E., May 2017, In: Brain : a journal of neurology. 140, p. 1267-1279 13 p.

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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 othersHelbig, I., Lerche, H. & Lemke, J. R., Oct 2016, In: Annals of Neurology. 80, 4, p. 638-642 5 p.

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  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.

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  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 othersKuismin, 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.

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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.

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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.

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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 journal › Article › Scientific › peer-review

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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 othersCilio, 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.

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