Article
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
Human molecular genetics - 1 Dec 2012
de Nijs Laurence, Wolkoff Nathalie, Coumans Bernard, Delgado-Escueta Antonio V, Grisar Thierry, Lakaye Bernard
Abstract excerpt
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized epilepsies, while homozygous F229L mutation is associated with primary intractable epilepsy in infancy. Heterozygous mutations in adolescent JME patients produce subtle malformations of cortical and subcortical architecture, whereas homozygous F229L mutation in infancy induces severe...
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