A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability

PLoS ONE

Volumn 6, Issue 11, 2011, Pages

  Seaver, Laurie H ^a,b   He, Xue Ying ^c   Abe, Keith ^b   Cowan, Tina ^d   Enns, Gregory M ^d   Sweetman, Lawrence ^e   Philipp, Manfred ^f   Lee, Sansan ^a   Malik, Mazhar ^c   Yang, Song Yu ^c  

^a Hawai'i Community Genetics   (United States)

^b UNIVERSITY OF HAWAII   (United States)

^c NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^f CITY UNIVERSITY OF NEW YORK   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYL 3 HYDROXYBUTYRATE; ALANINE; BUTYRIC ACID; CARBAMAZEPINE; CARNITINE; CYSTEINE; ETIRACETAM; LAMOTRIGINE; OXCARBAZEPINE; THREONINE; TRIGLYCINE; UNCLASSIFIED DRUG; VALINE; VALPROIC ACID; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; CARBOXYLIC ACID; HSD17B10 PROTEIN, HUMAN;

ADJUVANT THERAPY; ARTICLE; AUTISM; CASE REPORT; CHILD; CHILD BEHAVIOR; CHOREOATHETOSIS; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DRUG DOSE REDUCTION; DRUG SAFETY; DRUG TOLERABILITY; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPSY; GENETIC DISORDER; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYDROXYSTEROID (17BETA) DEHYDROGENASE 10 DEFICIENCY; HYDROXYSTEROID (17BETA) DEHYDROGENASE 10 GENE; HYPERKINESIA; LEARNING DISORDER; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PROTEIN RESTRICTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEIZURE; SPIKE WAVE; UNSPECIFIED SIDE EFFECT; ADULT; AMINO ACID SEQUENCE; ATHETOSIS; CHEMISTRY; CHOREA; ELECTROENCEPHALOGRAPHY; ELECTRON TRANSPORT; ENZYMOLOGY; FEMALE; FIBROBLAST; GENETICS; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; PRESCHOOL CHILD; URINE;

3-HYDROXYACYL COA DEHYDROGENASES; ADULT; AMINO ACID SEQUENCE; ATHETOSIS; BASE SEQUENCE; CARBOXYLIC ACIDS; CHILD; CHILD, PRESCHOOL; CHOREA; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; ELECTRON TRANSPORT; EPILEPSY; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; LEARNING DISORDERS; MALE; METABOLIC NETWORKS AND PATHWAYS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY;

EID: 81555212293     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0027348     Document Type: Article

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