Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature Genetics

Volumn 47, Issue 1, 2015, Pages 73-77

  Simons, Cas ^a   Rash, Lachlan D ^a   Crawford, Joanna ^a   Ma, Linlin ^a   Cristofori Armstrong, Ben ^a   Miller, David ^a,b   Ru, Kelin ^a   Baillie, Gregory J ^a   Alanay, Yasemin ^c   Jacquinet, Adeline ^d   Debray, François Guillaume ^d   Verloes, Alain ^e   Shen, Joseph ^f   Yesil, Gözde ^g   Guler, Serhat ^g   Yuksel, Adnan ^g   Cleary, John G ^h   Grimmond, Sean M ^a,i   McGaughran, Julie ^a,j   King, Glenn F ^a   Gabbett, Michael T ^j,k   Taft, Ryan J ^a,l,m   more..

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c ACIBADEM UNIVERSITY   (Turkey)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^g BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^h Real Time Genomics Ltd   (New Zealand)

ⁱ UNIVERSITY OF GLASGOW   (United Kingdom)

^j ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^k GRIFFITH UNIVERSITY   (Australia)

^l GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^m ILLUMINA INC   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

KCNH1 PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL; HYBRID PROTEIN; KCNH1 PROTEIN, HUMAN; POTASSIUM CHANNEL HERG;

ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; EPILEPSY; EXOME; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; MOSAICISM; MOTHER; NONHUMAN; OOCYTE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYSTEMIC DISEASE; TEMPLE BARAITSER SYNDROME; XENOPUS LAEVIS; AMINO ACID SEQUENCE; ANIMAL; CASE REPORT; CHEMISTRY; CHILD; COMPARATIVE STUDY; EXON; FEMALE; GENETICS; HALLUX; HEK293 CELL LINE; INFANT; INTELLECTUAL IMPAIRMENT; MALE; METABOLISM; MOLECULAR GENETICS; NAIL DISEASE; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PRESCHOOL CHILD; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY; THUMB;

AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; CONSERVED SEQUENCE; EPILEPSY; ETHER-A-GO-GO POTASSIUM CHANNELS; EXONS; FEMALE; HALLUX; HEK293 CELLS; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION, MISSENSE; NAILS, MALFORMED; OOCYTES; PROTEIN CONFORMATION; RECOMBINANT FUSION PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; THUMB; XENOPUS LAEVIS;

EID: 84925284598     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3153     Document Type: Article

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