GATOR1 complex gene mutations represent a potential target for novel therapeutic approaches in focal epilepsy with cortical malformations.
May inform genetic evaluation in focal epilepsy with malformations; hypothesis-generating for mTORC1-targeted therapies.
GATOR1 complex gene mutations leading to mTORC1 pathway upregulation is an important cause of focal epilepsy with cortical malformations and represents a potential target for novel therapeutic approaches.
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Weckhuysen et al. (2016) studied this question.
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