Orphanet: Infantile epileptic dyskinetic encephalopathy

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Disease definition

A 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.

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Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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Newborn screening