Hyperekplexia-epilepsy syndrome

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A rare X-linked syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual auditory or tactile stimuli) followed by the development of early-onset frequently refractory tonic or myoclonic seizures. Progressive epileptic encephalopathy intellectual disability and psychomotor development arrest with subsequent decline may be additionally associated.

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 http://www.orphadata.org. Data version May 2024

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