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Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2
Berta Almoguera1, Emily McGinnis2, Debra Abrams1
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Acta Neurologica Scandinavica
|May 10, 2019
Summary
Genetic factors influence drug-resistant epilepsy (DRE). A study identified NTRK2 as a gene significantly associated with DRE, suggesting new mechanisms beyond current hypotheses for epilepsy treatment resistance.
Area of Science:
- Neurogenetics
- Pharmacogenomics
- Epilepsy Research
Background:
- Up to 40% of epilepsy patients develop drug-resistant epilepsy (DRE).
- Existing hypotheses (transporter and target) do not fully explain pan-pharmacoresistance in DRE.
- Genetic factors are implicated in DRE, necessitating further investigation.
Purpose of the Study:
- To identify genetic factors contributing to DRE.
- To test the transporter hypothesis and investigate novel genetic associations.
- To develop a phenotyping algorithm for classifying DRE, responders, and controls.
Main Methods:
- Developed a phenotyping algorithm to identify DRE, responders, and epilepsy-free controls.
- Sequenced participants using the Pharmacogenomics Research Network (PGRN) gene panel (82 genes).
- Tested the transporter hypothesis and analyzed associations with ATP-binding cassette genes and other novel factors.
Main Results:
- Identified a significant association between the NTRK2 gene (rs76950094) and DRE.
- NTRK2 encodes TrkB, a protein implicated in central nervous system development and potentially promoting epilepsy.
- Gene-based analysis further supported the association of NTRK2 with DRE.
Conclusions:
- The findings suggest NTRK2 plays a role in DRE.
- These results support alternative mechanisms for DRE, complementing existing hypotheses.
- Further research is needed to elucidate the precise role of NTRK2 in drug-resistant epilepsy.
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