Microduplication of 3p263 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function

Neuropediatrics

Volumn 44, Issue 5, 2013, Pages 268-271

  Shoukier, Moneef ^a   Fuchs, Sigrid ^b   Schwaibold, Eva ^a   Lingen, Michael ^a   Gärtner, Jutta ^a   Brockmann, Knut ^a   Zirn, Birgit ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

Author keywords

CHL1 gene; chromosomal duplication; epilepsy; intellectual disability

Indexed keywords

CHL1 PROTEIN; NERVE CELL ADHESION MOLECULE L1; UNCLASSIFIED DRUG; VALPROIC ACID; CELL ADHESION MOLECULE; CHL1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DELETION 3P26; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 3P26; COGNITION; COGNITIVE DEVELOPMENT; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; GENE DOSAGE; GENETIC ANALYSIS; GENETIC COUNSELING; HEAD CIRCUMFERENCE; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; PARENT; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD; SEIZURE; SLEEP; SPEECH DELAY; ADOLESCENT; COMPLICATION; GENETICS; PHENOTYPE; PHYSIOLOGY;

ADOLESCENT; CELL ADHESION MOLECULES; CHROMOSOME DUPLICATION; COGNITION; EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; PHENOTYPE;

EID: 84885061522     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1333874     Document Type: Article

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