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Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy Precision Panel

Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy (EIEE) describes a clinical and genetic heterogeneous group of epilepsy syndromes associated with severe cognitive and behavioral abnormalities.

Overview

Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy (EIEE) describes a clinical and genetic heterogeneous group of epilepsy syndromes associated with severe cognitive and behavioral abnormalities. Clinically these disorders vary in their age of onset, developmental outcome, etiologies, neuropsychological deficits, seizure types and prognosis. The difference between these two entities relies in the age of onset, EIEE manifests in the first year of life. Identifiable factors that may influence the course and degree of cognitive and behavioral impairment in these disorders include underlying etiology, age of onset, seizure frequency and severity, cumulative detrimental effect and genetic factors. Genetically these disorders can be caused by de novo mutations, but they can also be inherited in an autosomal dominant, recessive or X-linked pattern.
The Igenomix Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy (EIEE) Precision Panel  can serve as an accurate and directed diagnostic tool as well as for a differential diagnosis for early onset epilepsy ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy (EIEE) Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations:
- Early-onset seizures
- Metabolic abnormalities
- Myoclonic and partial motor seizures
- Infantile spasms

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical care with antiepileptic drugs, corticosteroids, vigilance and monitorization of cognitive status as well as surgical care if needed.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

Methodology

References

See scientific referrals

Olson, H. E., Kelly, M., LaCoursiere, C. M., Pinsky, R., Tambunan, D., Shain, C., Ramgopal, S., Takeoka, M., Libenson, M. H., Julich, K., Loddenkemper, T., Marsh, E. D., Segal, D., Koh, S., Salman, M. S., Paciorkowski, A. R., Yang, E., Bergin, A. M., Sheidley, B. R., & Poduri, A. (2017). Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Annals of neurology, 81(3), 419–429. https://doi.org/10.1002/ana.24883

Aeby, A., Sculier, C., Bouza, A. A., Askar, B., Lederer, D., Schoonjans, A. S., Vander Ghinst, M., Ceulemans, B., Offord, J., Lopez-Santiago, L. F., & Isom, L. L. (2019). SCN1B-linked early infantile developmental and epileptic encephalopathy. Annals of clinical and translational neurology, 6(12), 2354–2367. https://doi.org/10.1002/acn3.50921

Nashabat, M., Al Qahtani, X. S., Almakdob, S., Altwaijri, W., Ba-Armah, D. M., Hundallah, K., Al Hashem, A., Al Tala, S., Maddirevula, S., Alkuraya, F. S., Tabarki, B., & Alfadhel, M. (2019). The landscape of early infantile epileptic encephalopathy in a consanguineous population. Seizure, 69, 154–172. https://doi.org/10.1016/j.seizure.2019.04.018

Khan, S., & Al Baradie, R. (2012). Epileptic Encephalopathies: An Overview. Epilepsy Research And Treatment, 2012, 1-8. doi: 10.1155/2012/403592

Kural, Z., & Ozer, A. (2012). Epileptic Encephalopathies in Adults and Childhood. Epilepsy Research And Treatment, 2012, 1-8. doi: 10.1155/2012/205131

Radaelli, G., de Souza Santos, F., Borelli, W. V., Pisani, L., Nunes, M. L., Scorza, F. A., & da Costa, J. C. (2018). Causes of mortality in early infantile epileptic encephalopathy: A systematic review. Epilepsy & behavior : E&B, 85, 32–36. https://doi.org/10.1016/j.yebeh.2018.05.015

Spagnoli, C., Frattini, D., Rizzi, S., Salerno, G. G., & Fusco, C. (2019). Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations. Seizure, 65, 62–64. https://doi.org/10.1016/j.seizure.2019.01.002

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