Mutations in the EFHC1 gene have been found in several patients suffering from juvenile myoclonic epilepsy (JME). Researchers at GIGA have shown that EFHC1 loss of function disrupts cell division and induces apoptosis in cell culture.
Using ex vivo electroporation, they observed a dramatic decrease of radial migration because both division of cortical progenitors and locomotion of postmitotic neurons are impaired in the absence of the protein. Therefore, they propose that abnormal neuronal migration during development could lead to abnormal brain circuitry that, in turn, will produce JME.
Their goal is now to study the effect of EFHC1 and of its mutated forms on neocortical development and, subsequently, to study the functional consequences of the migratory deficits induced by EFHC1 loss of function.
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