Intellectual Disability
|
0.190 |
GeneticVariation
|
group |
BEFREE |
One such gene is CNTNAP2 encoding contactin-associated protein 2 (CASPR2), which harbours mutations associated to autism, schizophrenia, and intellectual disability.
|
30843029 |
2019 |
Intellectual Disability
|
0.190 |
Biomarker
|
group |
BEFREE |
Contactin associated protein-like 2 (CNTNAP2) has emerged as a prominent susceptibility gene implicated in multiple complex neurodevelopmental disorders, including autism spectrum disorders (ASD), intellectual disability (ID), and schizophrenia (SCZ).
|
29610457 |
2018 |
Intellectual Disability
|
0.190 |
Biomarker
|
group |
BEFREE |
CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy, language impairments and autistic features.
|
30586385 |
2018 |
Intellectual Disability
|
0.190 |
Biomarker
|
group |
BEFREE |
However, NMDAR antibodies (n=4) or CASPR2 antibodies (n=1) were identified in 5/11 (45.5%) women whose children were given a diagnosis of mild or unspecified mental retardation or disorders of psychological and motor development (collectively abbreviated as mental retardation and/or disorders of psychological development (MR/DPD)) compared with 9/176 (5.1%) of the remaining mother (p<0.001).
|
28572274 |
2017 |
Intellectual Disability
|
0.190 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia.
|
26843181 |
2016 |
Intellectual Disability
|
0.190 |
GeneticVariation
|
group |
BEFREE |
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
|
27439707 |
2016 |
Intellectual Disability
|
0.190 |
GeneticVariation
|
group |
BEFREE |
Genetic variation in the contactin associated protein-like 2 (CNTNAP2) gene, including copy number variations, exon deletions, truncations, single nucleotide variants, and polymorphisms have been associated with intellectual disability, epilepsy, schizophrenia, language disorders, and autism.
|
25918374 |
2015 |
Intellectual Disability
|
0.190 |
Biomarker
|
group |
BEFREE |
The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment.
|
23714751 |
2014 |
Intellectual Disability
|
0.190 |
GeneticVariation
|
group |
BEFREE |
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
|
19896112 |
2009 |
Intellectual Disability
|
0.190 |
Biomarker
|
group |
HPO |
|
|
|