Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

Päivi Koskenkorva; Jelena Hyppönen; Marja Äikiä; M Aikiä; Esa Mervaala; Tuula Kiviranta; Kai Eriksson; Anna-Elina Lehesjoki; Ritva Vanninen; Reetta Kälviäinen

doi:10.1159/000323470

Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

Päivi Koskenkorva, Jelena Hyppönen, Marja Äikiä, M Aikiä, Esa Mervaala, Tuula Kiviranta, Kai Eriksson, Anna-Elina Lehesjoki, Ritva Vanninen, Reetta Kälviäinen

Department of Paediatrics

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

Original language	English
Pages (from-to)	515-522
Journal	NEURODEGENERATIVE DISEASES
Volume	8
Issue number	6
DOIs	https://doi.org/10.1159/000323470
Publication status	Published - 2011
Publication type	A1 Journal article-refereed

Keywords

EPM1
Unverricht-Lundborg disease
compound heterozygote
cystatin B
progressive myoclonus epilepsy

Access to Document

10.1159/000323470

Cite this

Koskenkorva, P., Hyppönen, J., Äikiä, M., Aikiä, M., Mervaala, E., Kiviranta, T., Eriksson, K., Lehesjoki, A-E., Vanninen, R., & Kälviäinen, R. (2011). Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. NEURODEGENERATIVE DISEASES, 8(6), 515-522. https://doi.org/10.1159/000323470

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title = "Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene",

keywords = "EPM1, Unverricht-Lundborg disease, compound heterozygote, cystatin B, progressive myoclonus epilepsy, EPM1, Unverricht-Lundborg disease, compound heterozygote, cystatin B, progressive myoclonus epilepsy",

author = "P{\"a}ivi Koskenkorva and Jelena Hypp{\"o}nen and Marja {\"A}iki{\"a} and M Aiki{\"a} and Esa Mervaala and Tuula Kiviranta and Kai Eriksson and Anna-Elina Lehesjoki and Ritva Vanninen and Reetta K{\"a}lvi{\"a}inen",

year = "2011",

doi = "10.1159/000323470",

language = "English",

volume = "8",

pages = "515--522",

journal = "NEURODEGENERATIVE DISEASES",

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Koskenkorva, P, Hyppönen, J, Äikiä, M, Aikiä, M, Mervaala, E, Kiviranta, T, Eriksson, K, Lehesjoki, A-E, Vanninen, R & Kälviäinen, R 2011, 'Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene', NEURODEGENERATIVE DISEASES, vol. 8, no. 6, pp. 515-522. https://doi.org/10.1159/000323470

Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. / Koskenkorva, Päivi; Hyppönen, Jelena; Äikiä, Marja et al.
In: NEURODEGENERATIVE DISEASES, Vol. 8, No. 6, 2011, p. 515-522.

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

TY - JOUR

T1 - Severer phenotype in Unverricht-Lundborg Disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

AU - Koskenkorva, Päivi

AU - Hyppönen, Jelena

AU - Äikiä, Marja

AU - Aikiä, M

AU - Mervaala, Esa

AU - Kiviranta, Tuula

AU - Eriksson, Kai

AU - Lehesjoki, Anna-Elina

AU - Vanninen, Ritva

AU - Kälviäinen, Reetta

PY - 2011

Y1 - 2011

KW - EPM1

KW - Unverricht-Lundborg disease

KW - compound heterozygote

KW - cystatin B

KW - progressive myoclonus epilepsy

KW - EPM1

KW - Unverricht-Lundborg disease

KW - compound heterozygote

KW - cystatin B

KW - progressive myoclonus epilepsy

U2 - 10.1159/000323470

DO - 10.1159/000323470

M3 - Article

SN - 1660-2854

VL - 8

SP - 515

EP - 522

JO - NEURODEGENERATIVE DISEASES

JF - NEURODEGENERATIVE DISEASES

IS - 6

ER -