EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.16.1.10 | Brain Diseases |
27236917 |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. |
causal interaction
unassigned |
1
0 |
| 1.16.1.10 | Brain Diseases |
27239025 |
Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. |
causal interaction
unassigned |
1
0 |
| 1.16.1.10 | Brain Diseases |
29086067 |
Emerging Monogenic Complex Hyperkinetic Disorders. |
causal interaction
unassigned |
4
0 |
| 1.16.1.10 | Brain Diseases |
32928027 |
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. |
causal interaction
unassigned |
4
0 |
| 1.16.1.10 | Brain Diseases |
34483011 |
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 1.16.1.10 | Drug Resistant Epilepsy |
32928027 |
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. |
causal interaction
unassigned |
4
0 |
| 1.16.1.10 | Drug Resistant Epilepsy |
34483011 |
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 1.16.1.10 | Dyskinesias |
32928027 |
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. |
causal interaction
unassigned |
4
0 |
| 1.16.1.10 | Epilepsy |
27236917 |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. |
causal interaction
unassigned |
1
0 |
| 1.16.1.10 | Epilepsy |
29276473 |
Ferric Chelate Reductase 1 Like Protein (FRRS1L) Associates with Dynein Vesicles and Regulates Glutamatergic Synaptic Transmission. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
