Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Human Molecular Genetics

Volumn 23, Issue 12, 2014, Pages 3200-3211

  Martin, Hilary C ^a   Kim, Grace E ^b   Pagnamenta, Alistair T ^a,c   Murakami, Yoshiko ^d   Carvill, Gemma L ^e   Meyer, Esther ^f,g   Copley, Richard R ^a,c   Rimmer, Andrew ^a   Barcia, Giulia ^h   Fleming, Matthew R ^b   Kronengold, Jack ^b   Brown, Maile R ^b   Hudspith, Karl A ^a,c   Broxholme, John ^a   Kanapin, Alexander ^a   Cazier, Jean Baptiste ^a   Kinoshita, Taroh ^d   Nabbout, Rima ^h   Bentley, David ⁱ   McVean, Gil ^a   Heavin, Sinéad ^j   Zaiwalla, Zenobia ^k   McShane, Tony ^k   Mefford, Heather C ^e   Shears, Deborah ^l   Stewart, Helen ^l   Kurian, Manju A ^f   Scheffer, Ingrid E ^j   Blair, Edward ^l   Donnelly, Peter ^a   Kaczmarek, Leonard K ^b   Taylor, Jenny C ^a,c   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

^d OSAKA UNIVERSITY   (Japan)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ ILLUMINA INC   (United States)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^l OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CASEIN KINASE I; GLYCOSYLPHOSPHATIDYLINOSITOL; N ACETYLGLUCOSAMINYLTRANSFERASE; POTASSIUM CHANNEL KCNQ2; PROTEIN SERINE THREONINE KINASE; SODIUM CHANNEL NAV1.2; CBL PROTEIN; CBL PROTEIN, HUMAN; KCNQ2 PROTEIN, HUMAN; KCNT1 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN; PIGQ PROTEIN, HUMAN; POTASSIUM CHANNEL; SCN2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; BRAIN ELECTROPHYSIOLOGY; CHILD; CHROMOSOME 9; CLINICAL ARTICLE; ELECTROENCEPHALOGRAM; EPILEPSY; EXON SKIPPING; FEMALE; FRONTAL LOBE EPILEPSY; GENE FUNCTION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; GERMLINE MUTATION; GRAND MAL EPILEPSY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OHTAHARA SYNDROME; OOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE GENE; RNA SPLICING; SEVERE EARLY ONSET EPILEPSY; SEVERE NON SYNDROMIC EARLY ONSET EPILEPSY; UNIPARENTAL DISOMY; WHOLE GENOME SEQUENCE; XENOPUS LAEVIS; YOUNG ADULT; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MOLECULAR PATHOLOGY; MUTATION; PATHOLOGY;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 9; EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KCNQ2 POTASSIUM CHANNEL; MALE; MEMBRANE PROTEINS; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; PATHOLOGY, MOLECULAR; POTASSIUM CHANNELS; PROTO-ONCOGENE PROTEINS C-CBL; UNIPARENTAL DISOMY; YOUNG ADULT;

EID: 84900557599     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu030     Document Type: Article

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