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GTR Home > Tests > Epilepsy exome

Indication

This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Clinical summary

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A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death. [from ORDO]

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. - PubMed ID: 15492925

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