Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Neurology

Volumn 85, Issue 4, 2015, Pages 306-315

  Anttonen, Anna Kaisa ^a,b,c   Hilander, Taru ^b   Linnankivi, Tarja ^b   Isohanni, Pirjo ^b   French, Rachel L ^d   Liu, Yuchen ^e   Simonović, Miljan ^d   Söll, Dieter ^e   Somer, Mirja ^f   Muth Pawlak, Dorota ^g   Corthals, Garry L ^g,j   Laari, Anni ^b   Ylikallio, Emil ^b   Lähde, Marja ^h   Valanne, Leena ⁱ   Lönnqvist, Tuula ^b   Pihko, Helena ^b   Paetau, Anders ^b   Lehesjoki, Anna Elina ^b   Suomalainen, Anu ^c   Tyynismaa, Henna ^a   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^e YALE UNIVERSITY   (United States)

^f South Karelia Central Hospital ^*  (Finland)

^g UNIVERSITY OF TURKU   (Finland)

^h SOUTH KARELIA CENTRAL HOSPITAL   (Finland)

ⁱ HOSPITAL DISTRICT OF HELSINKI AND UUSIMAA   (Finland)

^j UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MYELIN; O PHOSPHOSERYL TRANSFER RNA SELENOCYSTEINYL TRANSFER RNA SYNTHASE; SELENOPROTEIN; SYNTHETASE; UNCLASSIFIED DRUG; AMINO ACID TRANSFER RNA LIGASE; O-PHOSPHOSERYL-TRNA:SELENOCYSTEINYL-TRNA SYNTHASE, HUMAN;

ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; BRAIN NECROSIS; CASE REPORT; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; DYSTONIA; EXOME; FEMALE; GENE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; IRRITABILITY; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; NEUROPATHOLOGY; NEUROPATHY; NONSENSE MUTATION; OXIDATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN SYNTHESIS; PSYCHOMOTOR DEVELOPMENT; QUADRIPLEGIA; SEPSECS GENE; SPASTICITY; WESTERN BLOTTING; ADOLESCENT; BIOSYNTHESIS; BLOOD; BRAIN; CEREBROSPINAL FLUID; CHILD; DEFICIENCY; GENETICS; METABOLIC ENCEPHALOPATHY; METABOLISM; MUTATION; OXIDATIVE STRESS; PATHOLOGY; PRESCHOOL CHILD;

ADOLESCENT; AMINO ACYL-TRNA SYNTHETASES; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LACTIC ACID; MALE; MUTATION; OXIDATIVE STRESS; SELENOPROTEINS;

EID: 84946894024     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001787     Document Type: Article

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