Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

J Uusimaa; IE Hassinen; K Majamaa; R Hinttala; H Rantala; M Päivärinta; R Herva; M Röyttä; H Soini; JS Moilanen; AM Remes

doi:10.1111/j.1528-1167.2008.01544.x

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

J Uusimaa, IE Hassinen, K Majamaa, R Hinttala, H Rantala, M Päivärinta, R Herva, M Röyttä, H Soini, JS Moilanen, AM Remes

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

74 Citations (Scopus)

Original language	English
Pages (from-to)	1038-1045
Journal	Epilepsia
Volume	49
Issue number	6
DOIs	https://doi.org/10.1111/j.1528-1167.2008.01544.x
Publication status	Published - 2008
Externally published	Yes
Publication type	A1 Journal article-refereed

Access to Document

10.1111/j.1528-1167.2008.01544.x

Cite this

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title = "Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus",

author = "J Uusimaa and IE Hassinen and K Majamaa and R Hinttala and H Rantala and M P{\"a}iv{\"a}rinta and R Herva and M R{\"o}ytt{\"a} and H Soini and JS Moilanen and AM Remes",

year = "2008",

doi = "10.1111/j.1528-1167.2008.01544.x",

language = "English",

volume = "49",

pages = "1038--1045",

journal = "Epilepsia",

issn = "0013-9580",

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TY - JOUR

T1 - Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

AU - Uusimaa, J

AU - Hassinen, IE

AU - Majamaa, K

AU - Hinttala, R

AU - Rantala, H

AU - Päivärinta, M

AU - Herva, R

AU - Röyttä, M

AU - Soini, H

AU - Moilanen, JS

AU - Remes, AM

PY - 2008

Y1 - 2008

U2 - 10.1111/j.1528-1167.2008.01544.x

DO - 10.1111/j.1528-1167.2008.01544.x

M3 - Article

SN - 0013-9580

VL - 49

SP - 1038

EP - 1045

JO - Epilepsia

JF - Epilepsia

IS - 6

ER -