EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
|
27236917 |
2016 |
Choreoathetosis
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies.
|
30692144 |
2019 |
Choreoathetosis
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein.
|
27236917 |
2016 |
Severe intellectual disability
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity.
|
28675162 |
2017 |
Epilepsy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein.
|
27236917 |
2016 |
Epilepsy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recent proteomic studies have identified that Ferric Chelate Reductase 1 Like protein (FRRS1L), whose mutations in human lead to epilepsy, choreoathetosis, and cognitive deficits, is present in native AMPAR complexes in the brain.
|
29276473 |
2017 |
Encephalopathies
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies.
|
30692144 |
2019 |
Encephalopathies
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
|
27236917 |
2016 |
Impaired cognition
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity.
|
28675162 |
2017 |
Impaired cognition
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies.
|
30692144 |
2019 |
Cognition Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies.
|
30692144 |
2019 |
Speech Delay
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity.
|
28675162 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.
|
27239025 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
|
30914295 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Choreoathetosis
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Severe intellectual disability
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Chorea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Depressive disorder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dyskinetic syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Impulsive Behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Mild Mental Retardation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Moderate intellectual disability
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|