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Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist
Amanda W Pong1, Deb K Pal, Wendy K Chung
1Department of Neurology, Neurological Institute, Columbia University Medical Center, Columbia University, New York, New York 10032, USA. awp4@columbia.edu
Pediatric Neurology
|April 13, 2011
Summary
Genetic testing is becoming crucial for diagnosing rare and common epilepsies. This review guides neurologists on molecular diagnostics, including microarray and sequencing, for epilepsy genetic evaluations.
Area of Science:
- Neurology
- Genetics
- Molecular Diagnostics
Background:
- Genetic factors are increasingly recognized in both rare and common epilepsies.
- Neurologists frequently incorporate genetic testing into epilepsy syndrome evaluations.
- Growing patient interest and advancements in molecular diagnostics are expanding genetic testing for epilepsies.
Purpose of the Study:
- To provide a practical overview of molecular diagnostic platforms for the genetic evaluation of epilepsies.
- To review recent and planned developments in clinical genetic testing, including indications, strengths, and limitations.
- To outline the approach to genetic evaluations, emphasizing clinical assessment and available resources.
Main Methods:
- Review of genome-wide microarray methods (copy number variations), karyotypes, and sequence-based testing.
- Discussion of the general approach to genetic evaluations for epilepsy.
- Identification of potential social, legal, and financial barriers to genetic testing.
Main Results:
- Elucidation of genetic contributions to various epilepsy types is advancing rapidly.
- Clinical molecular diagnostics are evolving, increasing the availability and interest in genetic tests.
- Various genetic testing platforms, including microarrays and sequencing, are available with specific indications.
Conclusions:
- Genetic evaluations are integral to modern epilepsy diagnosis and management.
- Understanding different genetic testing modalities and their limitations is essential for neurologists.
- Addressing barriers and concerns related to clinical utility and recurrence risk is important for effective genetic counseling.
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01:24Epilepsy and Seizures: Overview
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
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