Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Journal of Medical Genetics

Volumn 53, Issue 12, 2016, Pages 820-827

  Smogavec, Mateja ^a   Cleall, Alison ^b   Hoyer, Juliane ^c   Lederer, Damien ^d   Nassogne, Marie Cécile ^e   Palmer, Elizabeth E ^f,g   Deprez, Marie ^d   Benoit, Valérie ^d   Maystadt, Isabelle ^d   Noakes, Charlotte ^b   Leal, Alejandro ^c,h   Shaw, Marie ⁱ   Gecz, Jozef ⁱ   Raymond, Lucy ^j   Reis, André ^c   Shears, Deborah ^b   Brockmann, Knut ^a   Zweier, Christiane ^c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d Center for Human Genetics   (Belgium)

^e CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^f Hunter Health   (Australia)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

^h UNIVERSIDAD DE COSTA RICA   (Costa Rica)

ⁱ UNIVERSITY OF ADELAIDE   (Australia)

^j UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CNTNAP2 GENE; COGNITIVE DEFECT; COPY NUMBER VARIATION; CORTICAL DYSPLASIA; EPILEPSY; EXON; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IN SITU HYBRIDIZATION; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; MIDDLE AGED; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPEECH; WRITING; ALLELE; DNA MUTATIONAL ANALYSIS; FOCAL EPILEPSY; GENETIC PREDISPOSITION; GENETICS; INFANT; INTELLECTUAL DISABILITY; METABOLISM; MUTATION; PEDIGREE; SYNDROME;

CNTNAP2 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; EPILEPSIES, PARTIAL; EPILEPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 84978664164     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103880     Document Type: Article

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