Recessive ITPA mutations cause an early infantile encephalopathy

Annals of Neurology

Volumn 78, Issue 4, 2015, Pages 649-658

  Kevelam, Sietske H ^a,b   Bierau, Jörgen ^c   Salvarinova, Ramona ^d   Agrawal, Shakti ^e   Honzik, Tomas ^f   Visser, Dennis ^c   Weiss, Marjan M ^a   Salomons, Gajja S ^a,b   Abbink, Truus E M ^a,b   Waisfisz, Quinten ^a   Van Der Knaap, Marjo S ^a,b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

INORGANIC PYROPHOSPHATASE; INOSINE TRIPHOSPHATE PYROPHOSPHATASE; UNCLASSIFIED DRUG; ITPA PROTEIN, HUMAN;

ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; BRAIN STEM; CAPSULA INTERNA; CHROMOSOME 20; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONSANGUINITY; CONTROLLED STUDY; EARLY INFANTILE ENCEPHALOPATHY; ERYTHROCYTE; EXOME; FIBROBLAST; GENE; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; ITPA GENE; LOSS OF FUNCTION MUTATION; MICROCEPHALY; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; WHITE MATTER; BRAIN DISEASES; CHEMISTRY; FEMALE; GENETICS; MALE; MUTATION; PRESCHOOL CHILD; PROTEIN SECONDARY STRUCTURE; RECESSIVE GENE;

BRAIN DISEASES; CHILD, PRESCHOOL; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; MUTATION; PROTEIN STRUCTURE, SECONDARY; PYROPHOSPHATASES;

EID: 84942365289     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24496     Document Type: Article

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