A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 358-361

  Verhoeven, Willem M A ^a,b   Egger, Jos I M ^a,c   Feenstra, Ilse ^d   De Leeuw, Nicole ^d  

^a VINCENT VAN GOGH INSTITUTE FOR PSYCHIATRY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

8q12.3q13.2; CSWS; De novo microdeletion; Dysmorphic features; Epilepsy; ESES; Intellectual disability; Neuropsychological dysfunction; SNP array

Indexed keywords

CLOBAZAM; MELATONIN; METHYLPHENIDATE;

ARTICLE; ATTENTION DISTURBANCE; CASE REPORT; CHILD; CHROMOSOME 8Q; COMMUNICATION SKILL; CONTINUOUS SPIKE WAVE DURING SLOW SLEEP SYNDROME; CYTOGENETICS; DEVELOPMENTAL COORDINATION DISORDER; ELECTRICAL STATUS EPILEPTICUS IN SLEEP; ELECTROENCEPHALOGRAM; EMOTION; EPILEPSY; EPILEPTIC STATE; EXECUTIVE FUNCTION; FEMALE; GENE DELETION; GENETIC ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MENTAL CAPACITY; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PHENOTYPE; PHYSICAL EXAMINATION; PRIMARY MEDICAL CARE; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP DISORDER; SOCIAL INTERACTION; SPIKE WAVE; VISUAL IMPAIRMENT;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84862164052     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.10.005     Document Type: Article

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