EFHC1 interacts with microtubules to regulate cell division and cortical development

@article{Nijs2009EFHC1IW,
  title={EFHC1 interacts with microtubules to regulate cell division and cortical development},
  author={Laurence de Nijs and Christine M Leon and Laurent Nguyen and Joseph J. Loturco and Antonio V Delgado-Escueta and Thierry Grisar and Bernard Lakaye},
  journal={Nature Neuroscience},
  year={2009},
  volume={12},
  pages={1266-1274}
}
Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic generalized epilepsies. JME is associated with subtle alterations of cortical and subcortical architecture, but the underlying pathological mechanism remains unknown. We found that EFHC1 is a microtubule-associated protein involved in the regulation of cell division. In vitro, EFHC1 loss of function disrupted mitotic spindle organization, impaired M phase progression… CONTINUE READING
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Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy

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