eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0037769|infantile spasms |
| Sentences | 3 |
| PubMedID- 22678952 | Mutations in the cyclin-dependent kinase-like 5 gene (cdkl5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with rett syndrome. |
| PubMedID- 23838309 | Conclusions: the review of the available data allowed to recognize a common epileptic core, characterized by early onset, age dependent epileptic encephalopathy with infantile spasms and typical, atypical or modified hypsarrhythmia. |
| PubMedID- 23312951 | infantile spasms are age-specific seizures of infantile epileptic encephalopathies that are usually associated with poor epilepsy and neurodevelopmental outcomes. |
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