PedAM
Pediatric Disease Annotations & Medicines
| Disease | encephalopathy |
| Phenotype | C0014544|epilepsy |
| Sentences | 14 |
| PubMedID- 26358754 | Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in smc1a. |
| PubMedID- 23305742 | Interpretation: nodding syndrome is an epidemic epilepsy associated with encephalopathy, with head nodding caused by atonic seizures. |
| PubMedID- 25864721 | Grin1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. |
| PubMedID- 25439098 | 5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. |
| PubMedID- 20301791 | Alpers-huttenlocher syndrome (ahs), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. |
| PubMedID- 23932106 | Biallelic szt2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. |
| PubMedID- 22982002 | Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: a clinical and encephalographic study. |
| PubMedID- 23933818 | We sought to delineate the pathogenic role of grin2a in 519 epileptic encephalopathy probands with diverse epilepsy syndromes. |
| PubMedID- 23409955 | Reduction of seizure frequency after epilepsy surgery in a patient with stxbp1 encephalopathy and clinical description of six novel mutation carriers. |
| PubMedID- 25690439 | Long-term risk of seizures and epilepsy in patients with posterior reversible encephalopathy syndrome. |
| 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- 22290576 | Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. |
| PubMedID- 26251896 | Mutations in α subunits result in pediatric- and juvenile-onset presentations such as alpers–huttenlocher syndrome (severe infantile-onset encephalopathy with epilepsy associated with hepatic failure), sando (sensory ataxic neuropathy, dysarthria and ophthalmoplegia) and miras (mitochondrial recessive ataxia syndrome) [42]. |
| PubMedID- 20083416 | Galloway-mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. |
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