A1 Refereed original research article in a scientific journal

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate




AuthorsAnttonen 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

PublisherLIPPINCOTT WILLIAMS & WILKINS

Publication year2015

JournalNeurology

Journal name in sourceNEUROLOGY

Journal acronymNEUROLOGY

Volume85

Issue4

First page 306

Last page315

Number of pages10

ISSN0028-3878

DOIhttps://doi.org/10.1212/WNL.0000000000001787


Abstract

Conclusions:These results extend the phenotypes caused by defective selenocysteine biosynthesis, and suggest SEPSECS as a candidate gene for progressive encephalopathies with lactate elevation.




Last updated on 2024-26-11 at 16:44