Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

Epilepsy Research

Volumn 108, Issue 1, 2014, Pages 109-116

  Jähn, Johanna A ^a   von Spiczak, Sarah ^a,b   Muhle, Hiltrud ^a   Obermeier, Tanja ^a   Franke, Andre ^c   Mefford, Heather C ^d   Stephani, Ulrich ^a,b   Helbig, Ingo ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b Northern German Epilepsy Center for Children and Adolescents   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

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

Author keywords

15q11.2; 15q13.3; 16p13.11 microdeletions; Copy number variation

Indexed keywords

15Q11.2 MICRODELETION; 15Q13.3 MICRODELETION; 16P13.11 MICRODELETION; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME DELETION; CONTROLLED STUDY; EPILEPSY; FEMALE; FOCAL EPILEPSY; GENE FREQUENCY; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC RISK; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RISK ASSESSMENT; SCHOOL CHILD; YOUNG ADULT;

15Q11.2; 15Q13.3; 16P13.11 MICRODELETIONS; COPY NUMBER VARIATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 16; COHORT STUDIES; ELECTROENCEPHALOGRAPHY; EPILEPSY, GENERALIZED; FEMALE; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; PEDIGREE; PHENOTYPE; RECURRENCE; SEIZURES;

EID: 84890802172     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.10.001     Document Type: Article

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