Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

: 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

: 2015

: Neurology

: NEUROLOGY

: 85

: 4

: 306

: 315

: 10

: 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.