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GTR Home > Tests > Early Infantile Epileptic Encephalopathy Panel


Test name


Early Infantile Epileptic Encephalopathy Panel

Purpose of the test


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



Click Indication tab for more information.

How to order


All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Deprez L, et al. “Genetics of epilepsy syndromes starting in the first year of life”. (2009) Neurology 72: 273-281. 2. Mastrangelo M, et al. “Genes of early –onset epileptic encephalopathies: from genotype to phenotype.” (2012) Pediatr. Neurol. 46:24-31. 3. Stromme et.al. “Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy”. (2002) Nature Genet. 30:441-445. 4. Weaving LS, et. al,. “Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation”. (2004) Am J Hum Genet 75: 1079-93. 5. Archer, et al. “CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients”. (2006) J Med Genet, 43:729-734. 6. Elia M, et al. “CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy”. (2008) Neurology 71(13): 997-9. 7. Molinari, F et al., Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.