Abstract | PURPOSE OF REVIEW: RECENT FINDINGS: Somatic gene variants have been identified in genes encoding regulatory proteins within the mechanistic target of rapamycin (mTOR) signaling cascade and have thus comprised the group classified as mTORopathies. FCD II and hemimegalencephaly often result from mutations in identical genes suggesting that these are spectrum disorders. An exciting recent development has been the identification of somatic mutations causing both FCD Ia and nonlesional neocortical epilepsy. SUMMARY: Defining somatic gene mutations in brain tissue specimens has shed new light on how MCD form and the mechanisms of epileptogenesis associated with MCD. Trials of mTOR inhibitors in tuberous sclerosis complex have demonstrated that inhibition of mTOR activation in mTORopathies can reduce seizure frequency. New somatic mutations found for a variety of epilepsy syndromes may provide new targets for clinical therapeutics.
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Authors | Philip H Iffland 2nd, Peter B Crino |
Journal | Current opinion in neurology
(Curr Opin Neurol)
Vol. 32
Issue 2
Pg. 191-197
(04 2019)
ISSN: 1473-6551 [Electronic] England |
PMID | 30762606
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Review)
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Topics |
- Epilepsy
(genetics, pathology, therapy)
- Genetic Therapy
- Humans
- Malformations of Cortical Development
(genetics, pathology)
- Mutation
(genetics)
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