Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

New England Journal of Medicine

Volumn 360, Issue 19, 2009, Pages 1960-1970

  Bockenhauer, Detlef ^a   Feather, Sally ^b   Stanescu, Horia C ^a,c   Bandulik, Sascha ^d   Zdebik, Anselm A ^a   Reichold, Markus ^d   Tobin, Jonathan ^a   Lieberer, Evelyn ^d   Sterner, Christina ^d   Landoure, Guida ^a,c,e   Arora, Ruchi ^a   Sirimanna, Tony ^a   Thompson, Dorothy ^a   Cross, J Helen ^a   Van't Hoff, William ^a   Al Masri, Omar ^f   Tullus, Kjell ^a   Yeung, Stella ^b   Anikster, Yair ^c,g   Klootwijk, Enriko ^a,c   Hubank, Mike ^a   Dillon, Michael J ^a   Heitzmann, Dirk ^d   Arcos Burgos, Mauricio ^c,h   Knepper, Mark A ^c   Dobbie, Angus ^b   Gahl, William A ^c   Warth, Richard ^d   Sheridan, Eamonn ^b   Kleta, Robert ^a,c   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e UNIVERSITY OF BAMAKO   (Mali)

^f SHEIKH KHALIFA MEDICAL CITY   (United Arab Emirates)

^g SHEBA MEDICAL CENTER   (Israel)

^h UNIVERSITY OF MIAMI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KCNJ10 PROTEIN; LAMOTRIGINE; PHENOBARBITAL; POTASSIUM CHANNEL; UNCLASSIFIED DRUG; VALPROIC ACID; INWARDLY RECTIFYING POTASSIUM CHANNEL; POTASSIUM; POTASSIUM INWARDLY RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 10; POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 10; SODIUM;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; ATAXIA; BLOOD PRESSURE REGULATION; BRAIN; CHILD; CHROMOSOME 1Q; CLINICAL ARTICLE; CONTROLLED STUDY; DEHYDRATION; EPILEPSY; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION PROFILING; GENE LOCATION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOME ANALYSIS; HUMAN; INNER EAR; KIDNEY; KIDNEY TUBULE DISORDER; MALE; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; OOCYTE; PERCEPTION DEAFNESS; POTASSIUM TRANSPORT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SALT WASTING; SEQUENCE ANALYSIS; TONIC CLONIC SEIZURE; XENOPUS; AMINO ACID SEQUENCE; ANIMAL; CHROMOSOME 1; DNA SEQUENCE; GENETICS; METABOLISM; MOLECULAR GENETICS; MOUSE MUTANT; PEDIGREE; PHENOTYPE; RECESSIVE GENE; SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; ATAXIA; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; EPILEPSY; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; LOD SCORE; MALE; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POTASSIUM; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RENAL TUBULAR TRANSPORT, INBORN ERRORS; SEQUENCE ANALYSIS, DNA; SODIUM; SYNDROME;

EID: 65649112786     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0810276     Document Type: Article

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