Ontology highlight
ABSTRACT:
SUBMITTER: de Nijs L
PROVIDER: S-EPMC3490517 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
de Nijs Laurence L Wolkoff Nathalie N Coumans Bernard B Delgado-Escueta Antonio V AV Grisar Thierry T Lakaye Bernard B
Human molecular genetics 20120827 23
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 brain pathology and death. However, the underlying pathological mechanisms for these ob ...[more]