Infantile epileptic-dyskinetic encephalopathy
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia recurrent status dystonicus intractable focal epilepsy and severe intellectual disability.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Infantile epileptic-dyskinetic encephalopathy?
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