|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Our enrollment goal was 30 LGI1/CASPR2-IgG-seropositive adult patients with ≥2 seizures per week.
|
31782181 |
2020 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The Kv1.1 and Kv1.2 (also known as KCNA1 and KCNA2, respectively) subunits are associated with cell adhesion molecules (CAMs), including Caspr2 (also known as CNTNAP2) and LGI1, which are implicated in autoimmune and genetic neurological diseases with seizures.
|
30598502 |
2019 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The presence of seizure comorbidity in many of these cases, as well as inhibitory neuron dysfunction in Cntnap2 knockout (KO) mice, suggests CNTNAP2 may be crucial for proper inhibitory network function.
|
29610457 |
2018 |
|
Seizures
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Compared to 'double negative' patients, a higher proportion of anti-LGI1/CASPR2 seropositive patients had complex partial seizures (5/7 vs 5/40; p = .003), limbic encephalitis (4/7 vs 2/40; p = .003), hippocampal imaging abnormalities (5/7 vs 3/39; p < .001), temporal epileptiform activity/electrographic seizures (4/6 vs 4/27; p = .020), tumours (3/7 vs 0/40; p = .002), and received acute immunotherapy (5/7 vs 6/40; p = .005) and maintenance immunotherapy (5/7 vs 4/40; p = .001).
|
30103974 |
2018 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Fifteen patients (an average age of 6.8, 14 patients with anti-NMDAR encephalitis and 1 patient with anti-CASPR2 encephalitis) presented seizure remission without any AEDs.
|
30671012 |
2018 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Although seizures observed in Cntnap2 KO rats were more similar to those in CDFE patients than in KO mice, neither model fully recapitulated the full spectrum of disease symptoms.
|
28364455 |
2017 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Thirteen patients identified, with antibodies to GAD (8), Ma2 (2), Hu (1), LGI1 (1) or CASPR2 (1).Mean age at seizure onset: 23 years.
|
28043058 |
2017 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
One patient with limbic encephalitis and antibodies against LGI1 also had antibodies against CASPR2, an autoantigen we identified in some patients with encephalitis and seizures, Morvan's syndrome, and neuromyotonia.
|
20580615 |
2010 |
|
Seizures
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4) in a patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable seizures and autism; and in situ and biochemical analyses reported herein that confirm expression in relevant brain regions and demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates.
|
18179895 |
2008 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|