Identification of a De Novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia

Movement Disorders

Volumn 23, Issue 4, 2008, Pages 610-613

  Kang, Hoon Chul ^a   You, Su Jeong ^a   Chey, Myung Jae ^a   Baik, Jong Sam ^b   Kim, Jong Won ^c   Ki, Chang Seok ^c  

^a Inje University College of Medicine   (South Korea)

^b Yonsei Cancer Center   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

A de novo mutation; Glycine receptor 1 sub unit; Hyperekplexia

Indexed keywords

BETAINE; CLONAZEPAM; GLUTAMINE; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA 1; PHENOBARBITAL; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; GLYCINE RECEPTOR ALPHA1; PRIMER DNA;

ARTICLE; CASE REPORT; DNA EXTRACTION; ELECTROENCEPHALOGRAM; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HYPEREKPLEXIA; INFANT; INFANTILE SPASM; KOREA; MAINTENANCE DRUG DOSE; MALE; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUSCLE STIFFNESS; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STARTLE REFLEX; ASIAN; DNA SEQUENCE; EXON; GENE EXPRESSION; GENETICS; GENOMICS; INTRON; METHODOLOGY; POINT MUTATION;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; GENE EXPRESSION; GENOMICS; HUMANS; INFANT; INTRONS; MALE; POINT MUTATION; RECEPTORS, GLYCINE; SEQUENCE ANALYSIS, DNA; STARTLE REACTION;

EID: 47549106347     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21909     Document Type: Article

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