CAD mutations and uridine-responsive epileptic encephalopathy

Brain

Volumn 140, Issue 2, 2017, Pages 279-286

  Koch, Johannes ^a   Mayr, Johannes A ^a   Alhaddad, Bader ^b   Rauscher, Christian ^a   Bierau, Jörgen ^c   Kovacs Nagy, Reka ^b   Coene, Karlien L M ^d,e,f   Bader, Ingrid ^a   Holzhacker, Monika ^a   Prokisch, Holger ^b,g   Venselaar, Hanka ^e   Wevers, Ron A ^d   Distelmaier, Felix ^h   Polster, Tilman ⁱ   Leiz, Steffen ^j   Betzler, Cornelia ^a,k   Strom, Tim M ^b,g   Sperl, Wolfgang ^a   Meitinger, Thomas ^b,g,l   Wortmann, Saskia B ^a,b,g   Haack, Tobias B ^b,g,m   more..

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f CATHARINA HOSPITAL   (Netherlands)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

^h UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

ⁱ EPILEPSY CENTER BETHEL   (Germany)

^j Klinikum Dritter Orden   (Germany)

^k Schon Klinik Vogtareuth   (Germany)

^l Germany 3 Munich Cluster for Systems Neurology   (Germany)

^m UNIVERSITY OF TÜBINGEN   (Germany)

more..

Author keywords

Anaemia; Anisopoikilocytosis; Epilepsy; Global developmental delay; Uridine

Indexed keywords

URIDINE; ASPARTATE CARBAMOYLTRANSFERASE; CAD TRIFUNCTIONAL ENZYME; CARBAMOYL PHOSPHATE SYNTHASE (GLUTAMINE HYDROLYSING); DIHYDROOROTASE;

ALLELE; ANEMIA; ANISOPOIKILOCYTOSIS; ARTICLE; BLOOD SMEAR; CAD GENE; CASE REPORT; CHILD; CHILDHOOD; CLINICAL FEATURE; CONGENITAL DYSERYTHROPOIETIC ANEMIA; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DRUG EFFICACY; FEMALE; GENE; GENE MUTATION; HEMATOLOGIC DISEASE; HUMAN; INFANT; LENNOX GASTAUT SYNDROME; LETHALITY; MALE; MINIMALLY CONSCIOUS STATE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT RESPONSE; WHOLE EXOME SEQUENCING; BRAIN; COMPLICATION; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; SPASMS, INFANTILE;

ANEMIA; ASPARTATE CARBAMOYLTRANSFERASE; BRAIN; CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING); CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DIHYDROOROTASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SPASMS, INFANTILE; URIDINE;

EID: 85014739842     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww300     Document Type: Article

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