Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Randomized Placebo-Controlled Trial of Intravenous Immunoglobulin in Autoimmune LGI1/CASPR2 Epilepsy.
|
31782181 |
2020 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in contactin associated protein-like 2 (CNTNAP2), a neurexin-related cell-adhesion protein, are strongly linked to autism and epilepsy.
|
28184409 |
2018 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Consistent with this result, mutations in the CNTNAP2 gene coding for CASPR2 in human have been identified in neurodevelopmental disorders such as autism, intellectual disability, and epilepsy.
|
30028556 |
2018 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
|
29179159 |
2018 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
By identifying novel homozygous or compound heterozygous, deleterious CNVs and mutations in eight individuals from six unrelated families with moderate-to-severe ID, early onset epilepsy and behavioural anomalies, we considerably broaden the mutational and clinical spectrum associated with bi-allelic aberrations in CNTNAP2.
|
27439707 |
2016 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CNTN2 knockout mice were previously reported to suffer from spontaneous seizures and mutations in the CNTNAP2 gene have been described to cause epilepsy in humans.
|
23518707 |
2013 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations.
|
21962519 |
2011 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations.
|
21962519 |
2011 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
|
20502679 |
2010 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children.
|
19302947 |
2009 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment.
|
17646849 |
2008 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment.
|
17646849 |
2008 |