Developmental and Epileptic Encephalopathy
Developmental and Epileptic Encephalopathy describes a clinical and genetic heterogeneous group of epilepsy syndromes associated with severe cognitive and behavioral abnormalities, being possible to distinguish between Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathies (EIEE). 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, early infantile epileptic encephalopathy 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 Developmental and Epileptic Encephalopathy Precision Panelcan 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.
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.
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