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- W36701375 abstract "The neuronal cytoskeleton plays an important role in axonal transport and cellular division. Some epileptic syndromes have been associated with mutations in genes encoding cytoskeleton proteins. These genetic defects lead to the production of important brain malformations due to abnormalities in either cell division or migration, occurring during brain development. We present here the approach used to explore the properties of an unknown protein, called EFHC1, whose gene is mutated in different juvenile myoclonic epilepsy pedigrees – a clear ‘nonlesional,’ inherited syndrome (idiopathic epilepsy). We have demonstrated that EFHC1 is a protein associated with the mitotic spindle and the centrosome, two major components of the cellular cytoskeleton." @default.
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- W36701375 date "2009-01-01" @default.
- W36701375 modified "2023-09-23" @default.
- W36701375 title "GENETICS | Cytoskeletal Genes and Idiopathic Epilepsies" @default.
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- W36701375 doi "https://doi.org/10.1016/b978-012373961-2.00087-4" @default.
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