A1 Refereed original research article in a scientific journal
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate
Authors: Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu YC, Simonovic M, Soll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lahde M, Valanne L, Lonnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H
Publisher: LIPPINCOTT WILLIAMS & WILKINS
Publication year: 2015
Journal: Neurology
Journal name in source: NEUROLOGY
Journal acronym: NEUROLOGY
Volume: 85
Issue: 4
First page : 306
Last page: 315
Number of pages: 10
ISSN: 0028-3878
DOI: https://doi.org/10.1212/WNL.0000000000001787
Conclusions:These results extend the phenotypes caused by defective selenocysteine biosynthesis, and suggest SEPSECS as a candidate gene for progressive encephalopathies with lactate elevation.