Gene mutation analysis in 253 Chinese children with unexplained epilepsy and intellectual/developmental disabilities

PLoS ONE

Volumn 10, Issue 11, 2015, Pages

  Zhang, Yujia ^a,b   Kong, Weijing ^a   Gao, Yang ^c   Liu, Xiaoyan ^a   Gao, Kai ^a   Xie, Han ^a   Wu, Ye ^a   Zhang, Yuehua ^a   Wang, Jingmin ^a   Gao, Feng ^d   Wu, Xiru ^a   Jiang, Yuwu ^a,b  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b BEIJING INSTITUTE FOR BRAIN DISORDERS   (China)

^c DALIAN MEDICAL UNIVERSITY   (China)

^d ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; ETIRACETAM; HISTIDINE; LAMOTRIGINE; LEUCINE; OXCARBAZEPINE; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE; KCNAB1 PROTEIN, HUMAN; POTASSIUM CHANNEL KV1.3;

ARTICLE; CHILD; CHINESE; DEVELOPMENTAL DISORDER; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; EPILEPSY; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INDEL MUTATION; INFANT; INTELLECTUAL IMPAIRMENT; KCNAB1 GENE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PHENOTYPE; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; SCN1A GENE; STOP CODON; SYNAPSE; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHEMISTRY; COMPLICATION; DNA MUTATIONAL ANALYSIS; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR MODEL; MUTATION; PROTEIN QUATERNARY STRUCTURE;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTELLECTUAL DISABILITY; KV1.3 POTASSIUM CHANNEL; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, QUATERNARY;

EID: 84952659670     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0141782     Document Type: Article

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