Key publications

All publications in TUHAT portal

Anttonen A-K, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki A-E. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with impaired cerebellar granule cell migration. Brain 2017 Mar 1. doi: 10.1093/brain/awx040. [Epub ahead of print]

Okuneva O, Li Z, Körber I, Tegelberg S, Joensuu T, Tian L, Lehesjoki A-E. Brain inflammation is accompanied by peripheral inflammation in Cstb-/- mice, a model for progressive myoclonus epilepsy. J Neuroinflammation 13: 296, 2016

Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki A-E, Joensuu T. Gene-expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia. PLoS One 11: e0158195, 2016

Gaily E, Lommi M, Lapatto R, Lehesjoki A-E. Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study. Epilepsia 57: 1594-1601, 2016

Muona M, Fukata Y, Anttonen A-K, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki A-E. Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. Neurol Genet 2: e46, 2016

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, Anttonen A-K,14, Tanaka K, Palotie A, Waguri S, Lehesjoki A-E, Komatsu M. Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier to severe infantile-onset encephalopathy. Am J Hum Genet 99: 683-694, 2016

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand M, Andermann E, Andermann F, Antonio Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DA, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki A-E (2014). A recurrent de novo mutation in KCNC1 is a major cause of progressive myoclonus epilepsy. Nat Genet. 47: 39-46, 2015

Okuneva O, Körber I, Li Z, Tian L, Joensuu T, Kopra O, Lehesjoki A-E (2014). Abnormal microglial activation in the Cstb-/- mouse, a model for progressive myoclonus epilepsy, EPM1. Glia 63: 400-411, 2015

Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M, Hakala P, Pehkonen H, Korpi ER, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki A-E. Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation. Plos One 9: e89321, 2014

Gaily E, Anttonen A-K, Valanne L, Liukkonen E, Träskelin A.L, Polvi A, Lommi M, Muona M, Eriksson K, Lehesjoki A-E. Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal finds. Epilepsia 54:1577-1585, 2013

Manninen O, Koskenkorva P, Lehtimäki KK, Hyppönen J, Könönen M, Laitinen T, Kalimo H, Kopra O, Kälviäinen R, Gröhn O, Lehesjoki A-E, Vanninen R. Widespread White Matter Degeneration in Unverricht-Lundborg Disease – Translational Study in Patients and Cstb-deficient Mice Using Diffusion Tensor Imaging with Tract-Based Spatial Statistics. Radiology 269:232-239, 2013

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki A-E. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet 90:540-549, 2012

Tegelberg S, Kopra O, Joensuu T, Cooper JD, Lehesjoki A-E. Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model for progressive myoclonus epilepsy, EPM1. J Neuropathol Exp Neurol 71:40-53, 2012

Liao Y, Anttonen A-K, Liukkonen E, Gaily E, Maljevic S, Schubert A, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki A-E. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus and pain. Neurology 75:1454-1458, 2010 

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian B, Elleder M, Mole S, Lehesjoki A-E. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain 132:810-819, 2009

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. SCARB2 mutations in progressive myoclonus epilepsy without renal failure. Ann Neurol 66: 532-536, 2009

Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki A-E. Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. J Neurosci 29:5910-5915, 2009

Siintola E, Topcu M, Aula N. Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 81: 136-146, 2007

Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki A-E. Cystatin B: mutation detection, alternative splicing and expression in progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet 15: 185-193, 2007