A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

Nature Genetics

Volumn 18, Issue 1, 1998, Pages 25-29

  Singh, Nanda A ^a   Charlier, Carole ^a   Stauffer, Dora ^a   DuPont, Barbara R ^b   Leach, Robin J ^b   Melis, Roberta ^a   Ronen, Gabriel M ^c   Bjerre, Ingrid ^d   Quattlebaum, Thomas ^e   Murphy, Jerome V ^f   McHarg, Malcolm L ^g   Gagnon, David ^h   Rosales, Teodoro O ⁱ   Peiffer, Andy ^a   Elving Anderson, V ^j   Leppert, Mark ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^c MCMASTER UNIVERSITY   (Canada)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

^e MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^f CHILDREN S MERCY HOSPITAL   (United States)

^g Neurology Group   (United States)

^h BOSTON UNIVERSITY   (United States)

ⁱ New Janeway Childrens Health and Rehabilitation Centre   (Canada)

^j UNIVERSITY OF MINNESOTA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

BRAIN FUNCTION; CHROMOSOME 20Q; DATA ANALYSIS; DISEASE ASSOCIATION; DNA FLANKING REGION; EPILEPSY; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MULTIGENE FAMILY; NEWBORN; NEWBORN DISEASE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEIZURE; SITE DIRECTED MUTAGENESIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE, TRANSFORMED; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; DNA, COMPLEMENTARY; EPILEPSY; FEMALE; HUMANS; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE HOMOLOGY, AMINO ACID;

MAMMALIA;

EID: 17344372328     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0198-25     Document Type: Review

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