Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three chinese infants

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Yang, Zhixian ^a   Yang, Xiaoling ^a   Wu, Ye ^a   Wang, Jingmin ^a   Zhang, Yuehua ^a   Xiong, Hui ^a   Jiang, Yuwu ^a   Qin, Jiong ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; DIAZEPAM; ETIRACETAM; GANGLIOSIDE; LEVOTHYROXINE SODIUM; PHENOBARBITAL; PROPYLTHIOURACIL; PYRIDOXINE; THYROTROPIN; TOPIRAMATE; VALPROIC ACID; ALDEHYDE DEHYDROGENASE; ALDH7A1 PROTEIN, HUMAN; VITAMIN B COMPLEX;

ACUTE LIVER DYSFUNCTION; ADD ON THERAPY; ALDH7A1 GENE; ARTICLE; BRAIN DAMAGE; BRAIN SIZE; CASE REPORT; CHINESE; CLONUS; DISEASE DURATION; DRUG INTERMITTENT THERAPY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; EYE DISCOMFORT; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERTHYROIDISM; HYPOTHYROIDISM; HYPOXIC ISCHEMIC ENCEPHALOPATHY; INFANT; LIMB DEFECT; LIVER DYSFUNCTION; MALE; MATERNAL HYPERTENSION; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PYRIDOXINE DEPENDENT EPILEPSY; RECURRENT DISEASE; RELAPSE; SEIZURE; WHITE MATTER; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CLINICAL TRIAL; ENZYMOLOGY; GENETICS; NEWBORN; POINT MUTATION;

ALDEHYDE DEHYDROGENASE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; POINT MUTATION; PYRIDOXINE; VITAMIN B COMPLEX;

EID: 84899746485     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092803     Document Type: Article

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