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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease rett syndrome
Symptom C0036572|seizures
Sentences 4
PubMedID- 24109855 seizures are often associated with rett syndrome and can be observed in intracranial electroencephalogram (ieeg) recordings.
PubMedID- 24839550 rett syndrome leads to cognitive impairments, seizures and autistic-like behaviors, such as a lack of communication, impaired social interaction and repetitive stereotyped hand movements .
PubMedID- 26557170 The phenotype of cyclin-dependent kinase-like 5 (cdkl5) syndrome includes rett syndrome variant with early onset seizures, early onset epileptic encephalopathy; and severe developmental delay.
PubMedID- 22258043 Reflex seizures in rett syndrome.

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