Infantile epileptic-dyskinetic encephalopathy

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version February 2024

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Infantile epileptic-dyskinetic encephalopathy?

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