A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family

Journal of the Neurological Sciences

Volumn 221, Issue 1-2, 2004, Pages 31-34

  Tang, Beisha ^a   Li, Haiyan ^a   Xia, Kun ^b   Jiang, Hong ^a   Pan, Qian ^b   Shen, Lu ^a   Long, Zhigao ^b   Zhao, Guohua ^a   Cai, Fang ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b National Laboratory of Medical Genetics of China   (China)

Author keywords

BFNC; Epilepsy; KCNQ2; Mutation; Potassium channel

Indexed keywords

AMINO ACID; PHENOBARBITAL; POTASSIUM CHANNEL KCNQ2; VALPROIC ACID; VOLTAGE GATED POTASSIUM CHANNEL;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CARBOXY TERMINAL SEQUENCE; CHROMOSOME; CLINICAL FEATURE; CODON; CONTROLLED STUDY; FAMILY; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REMISSION;

BASE SEQUENCE; CHINA; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; LINKAGE (GENETICS); MALE; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEIZURES;

EID: 2642549716     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.03.001     Document Type: Article

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