Infantile epileptic-dyskinetic encephalopathy

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.

Disease data

Classification

Disease

ORPHA code

364063

OMIM code

308350

ICD10 code

G40.4

ICD11 code

*Soruce