eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0014544|epilepsy |
| Sentences | 11 |
| PubMedID- 23305742 | Interpretation: nodding syndrome is an epidemic epilepsy associated with encephalopathy, with head nodding caused by atonic seizures. |
| PubMedID- 23932106 | Biallelic szt2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. |
| PubMedID- 25690439 | Long-term risk of seizures and epilepsy in patients with posterior reversible encephalopathy syndrome. |
| PubMedID- 22290576 | Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. |
| PubMedID- 20083416 | Galloway-mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. |
| PubMedID- 22982002 | Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: a clinical and encephalographic study. |
| PubMedID- 23409955 | Reduction of seizure frequency after epilepsy surgery in a patient with stxbp1 encephalopathy and clinical description of six novel mutation carriers. |
| PubMedID- 24252685 | Infantile spasms are seizures manifesting in infantile epileptic encephalopathies that are associated with poor epilepsy and cognitive outcomes. |
| PubMedID- 26000322 | Taken together, our findings identified echs1 mutations as a cause of a new clinical entity characterized by an early onset, very severe (leigh-like) mitochondrial encephalopathy with deafness, epilepsy, optic atrophy, and cardiomyopathy. |
| PubMedID- 25864721 | Grin1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. |
| PubMedID- 26358754 | Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in smc1a. |
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