Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

Epilepsia

Volumn 54, Issue 7, 2013, Pages 1270-1281

  Veeramah, Krishna R ^a   Johnstone, Laurel ^a   Karafet, Tatiana M ^a   Wolf, Daniel ^a   Sprissler, Ryan ^a   Salogiannis, John ^b   Barth Maron, Asa ^b   Greenberg, Michael E ^b   Stuhlmann, Till ^c   Weinert, Stefanie ^c   Jentsch, Thomas J ^c   Pazzi, Marjorie ^d   Restifo, Linda L ^a,e   Talwar, Dinesh ^d,e   Erickson, Robert P ^e,f   Hammer, Michael F ^a  

^a UNIVERSITY OF ARIZONA   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d Center for Neurosciences   (United States)

^e UNIVERSITY OF ARIZONA   (United States)

^f University of Arizona   (United States)

Author keywords

ARHGEF15; CDKL5; CLCN4; Epileptic encephalopathy; SCN1A

Indexed keywords

ARGININE; SODIUM CHANNEL NAV1.1; VOLTAGE GATED POTASSIUM CHANNEL;

ADOLESCENT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; ION TRANSPORT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; WHOLE EXOME SEQUENCING;

ARHGEF15; CDKL5; CLCN4; EPILEPTIC ENCEPHALOPATHY; SCN1A;

ADOLESCENT; ANIMALS; ARGININE; CELL LINE; CHILD; CHILD, PRESCHOOL; EPILEPSY; ETHER-A-GO-GO POTASSIUM CHANNELS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; MEMBRANE POTENTIALS; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; PROTEIN-SERINE-THREONINE KINASES; RHOA GTP-BINDING PROTEIN; SEQUENCE ANALYSIS, DNA; TRANSDUCTION, GENETIC; TRANSFECTION; XENOPUS LAEVIS;

EID: 84879800606     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12201     Document Type: Article

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