Epilepsy is a group of disorders caused by disturbances with electrical signaling in the brain. According to Epilepsy.com, epilepsy is the most common severe neurological condition, affecting 65 million individuals worldwide and 2 million in the US at any one time. Approximately 150,000 individuals in the US are diagnosed every year, and one-third of patients have poorly-controlled seizures despite trials of several antiepileptic drugs.
Athena Diagnostics' Epilepsy Advanced Sequencing Evaluations are organized by phenotype in order to make test selection easy and efficient. Panels were created based on International League Against Epilepsy (ILAE) classification and may detect a disease-causing mutation in 48% of patients (Lemke et al.). Genes were chosen based on monogenic disorders for which epilepsy is a key feature according to the Online Mendelian Inheritance in Man (OMIM) database.
Athena Diagnostics also offers testing for autoimmune causes of epilepsy. Autoantibodies to neuronal proteins have been found in the serum and CSF of over 10% of patients with epilepsy, whether newly-diagnosed or established (Brenner et al.). Patients with these pathogenic autoantibodies may respond well to a combination of antiepileptic drugs and immunotherapy.
Our staff of genetic counselors and laboratory directors is available to assist you in the ordering process.
Presented by Susan Hahn, MS, CGC
Wednesday, May 3 at 12:00 PM ET.
Athena Diagnostics Client Services - (800) 394-4493 Option 2
Athena Diagnostics Genetic Counselors - Genetics@AthenaDiagnostics.com
Athena Diagnostics knows that epilepsy can be challenging to manage. We are committed to providing quality testing to find the cause of you or your loved one's seizure disorder.
We offer the Athena Alliance Program to make testing accessible and affordable. Learn more about the program here.
Athena Diagnostics is a leader in diagnostic testing for neurological diseases and offers innovative tests for Alzheimer's disease, muscular dystrophy and other neuromuscular and developmental disorders.
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