Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures

Clinical Genetics

Volumn 82, Issue 6, 2012, Pages 540-545

  Vincent, A K ^a,b   Noor, A ^a   Janson, A ^c   Minassian, B A ^b   Ayub, M ^d,e   Vincent, J B ^a,f   Morel, C F ^c  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d The Royal College of Psychiatrists   (United Kingdom)

^e DURHAM UNIVERSITY   (United Kingdom)

^f UNIVERSITY OF TORONTO   (Canada)

Author keywords

Cadherins; EFMR; Intellectual disability (ID); PCDH19; X linked disorder; Xq21.33 q22.1

Indexed keywords

ANTICONVULSIVE AGENT; VALPROIC ACID;

ADULT; AGGRESSION; AGITATION; APRAXIA; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BRUXISM; CASE REPORT; CHILD; CHROMOSOME Q BAND; CHROMOSOME XQ; COPY NUMBER VARIATION; CORTICAL DYSPLASIA; DISEASE ASSOCIATION; FEMALE; FLATFOOT; GENE; GENE DELETION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; HYPERACTIVITY; HYPERVENTILATION; IMPULSIVENESS; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; LOC442459 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNATHIA; PROTOCADHERIN 19 GENE; SCHOOL CHILD; SEIZURE; SRPX2 GENE; SYTL4 GENE; TNMD GENE; TONIC CLONIC SEIZURE; TSPAN6 GENE;

ABNORMALITIES, MULTIPLE; CADHERINS; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MICROARRAY ANALYSIS; REAL-TIME POLYMERASE CHAIN REACTION; SEIZURES; SEQUENCE DELETION; X CHROMOSOME INACTIVATION;

EID: 84869092276     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01812.x     Document Type: Article

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