Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Kwong, Anna Ka Yee ^a   Ho, Alvin Chi Chung ^a   Fung, Cheuk Wing ^a   Wong, Virginia Chun Nei ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ARX GENE; CDKL5 GENE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INDEL MUTATION; KCNQ2 GENE; MALE; MISSENSE MUTATION; MUTATION RATE; NERVE CELL EXCITABILITY; NON SYNDROMIC INFANTILE EPILEPTIC ENCEPHALOPATHY; NONSENSE MUTATION; PATHOGENICITY; PCDH19 GENE; POINT MUTATION; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; SCN1A GENE; SCN2A GENE; STXBP1 GENE; SYNAPTIC TRANSMISSION; AMINO ACID SEQUENCE; ANIMAL; GENETIC PREDISPOSITION; GENETICS; INFANT; INFANTILE SPASM; MOLECULAR GENETICS; NERVE CELL; PHYSIOLOGY; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; NEURONS; POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID; SPASMS, INFANTILE; SYNAPTIC TRANSMISSION;

EID: 84929104082     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0126446     Document Type: Article

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