Hyperekplexia and Epilepsy
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Severe intellectual disability
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Epileptic encephalopathy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Hypertonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Complex partial seizures
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Trigonocephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Complex partial seizure with impairment of consciousness
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Exaggerated startle response
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized tonic seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Developmental regression
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
X- linked recessive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual disability, progressive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Frontal lobe hypoplasia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
EEG with temporal focal spikes
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperekplexia and Epilepsy
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A) in exon 2 of the human collybistin gene (ARHGEF9) in a patient with clinical symptoms of both hyperekplexia and epilepsy.
|
15215304 |
2004 |
Hyperekplexia and Epilepsy
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A) in exon 2 of the human collybistin gene (ARHGEF9) in a patient with clinical symptoms of both hyperekplexia and epilepsy.
|
15215304 |
2004 |
Hyperekplexia and Epilepsy
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
|
17893116 |
2008 |
Hyperekplexia and Epilepsy
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
|
17893116 |
2008 |
Mental Retardation, X-Linked
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Consequently, we sequenced the coding exons and intron/exon borders of the ARHGEF9 gene in 99 probands from families with X linked mental retardation (XLMR) and 477 mentally retarded males in whom a diagnosis of Fragile X syndrome had been excluded.
|
17893116 |
2008 |
Intellectual Disability
|
0.070 |
Biomarker
|
group |
BEFREE |
While ARHGEF9 appears to be an uncommon cause of mental retardation in males, it should be considered in patients with mental retardation and sensory hyperarousal.
|
17893116 |
2008 |
Mental Retardation
|
0.040 |
Biomarker
|
disease |
BEFREE |
While ARHGEF9 appears to be an uncommon cause of mental retardation in males, it should be considered in patients with mental retardation and sensory hyperarousal.
|
17893116 |
2008 |
Fragile X Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Consequently, we sequenced the coding exons and intron/exon borders of the ARHGEF9 gene in 99 probands from families with X linked mental retardation (XLMR) and 477 mentally retarded males in whom a diagnosis of Fragile X syndrome had been excluded.
|
17893116 |
2008 |
Hyperekplexia and Epilepsy
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
|
18615734 |
2009 |
Intellectual Disability
|
0.070 |
GeneticVariation
|
group |
BEFREE |
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
|
18615734 |
2009 |