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Personal profile

Curriculum vitae

 

Education and training

1985 Licentiate of Medicine, University of Helsinki à Licentiate

1986 Licenced Physician

1989 Doctor of Medical Science, University of Helsinki

1997 Docent in Medical Molecular Genetics, University of Helsinki

 

Current positions

2003- Research Director and Professor, Neuroscience Center, University of Helsinki

2004- Head, Folkhälsan Institute of Genetics

2006- Head, Folkhälsan Reserach Center

2013- Group Leader, Molecular Neurology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki

 

Previous positions

1984-1986 Research Fellow (Medical Genetics), University of Helsinki

1989-1990 Research Associate (Medical Genetics), University of Helsinki

1990-1997 Career Scientis, Academy of Finland

1992 Visiting Research Associate, Departments of Psychiatry and Physiology, University of California, San Fransisico

1997-1998 Senior Fellow, Department of Medical Genetics, University of Helsinki

1998-2003 Senior Fellow, Academy of Finland

1997-2003 Head, Department of Molecular Genetics, Folkhälsan Institute of Genetics

1999-2000 Visiting Professor, Department of Paediatrics, University College London

2000-2011 Group Leader, Center of Excellence in Disease Genetics

2001-2002 Professor and Chief Physician in Medical Genetics, University of Helsinki Central Hospital

2007-2012 Group leader, Molecular Medicine Research Program, Faculty of Medicine, University of Helsinki

External positions

Research Director, Folkhälsanin tutkimuskeskus

Keywords

  • 3112 Neurosciences
  • 3111 Biomedicine

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

Publications 1994 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
File

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

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 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 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
File

Projects 2011 2014

Activities 1998 2016

Supervision of Doctoral Thesis: Mikko Muona

Anna-Elina Lehesjoki (Supervisor)
2016

Activity: Examination typesSupervisor or co-supervisor of doctoral thesis

Supervision of doctoral thesis: Otto Manninen

Anna-Elina Lehesjoki (Supervisor)
2015

Activity: Examination typesSupervisor or co-supervisor of doctoral thesis

GENERAL ASSEMBLY OF EuroEPINOMICS

Anna-Elina Lehesjoki (Chair of organizing committee)
23 Apr 201425 Apr 2014

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Co-supervisor of doctoral thesis: Riikka Mäkitie

Anna-Elina Lehesjoki (Co-supervisor)
2014 → …

Activity: Examination typesSupervisor or co-supervisor of doctoral thesis

University of Oulu (External organisation)

Anna-Elina Lehesjoki (Expert)
2014

Activity: Membership typesAssessment of candidates for academic posts