Juvenile myoclonic epilepsy: EFHC1 at the cross–roads?
نویسنده
چکیده
8 individuals. However whether or not the disease phenotype results from a gain or loss of function of the mutant protein is yet to be clearly established. Moreover, whether or not proteins coded by both the splice variants are involved in the etiology is yet to be tested. Nonetheless, functional studies on the EFHC1 protein, using in vitro and in vivo models, have uncovered rather unexpected physiological functions for this protein and have led to the proposal of three contrasting and apparently exclusive models for the epileptogenesis (see Fig. 1). This commentary highlights the recent findings on the EFHC1 gene functions and discuses its relevance to the genesis of epilepsy.
منابع مشابه
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
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...
متن کاملDefhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila.
Mutations in the EFHC1 gene have been linked to juvenile myoclonic epilepsy. To understand EFHC1 function in vivo, we generated knockout Drosophila for the fly homolog Defhc1.1. We found that the neuromuscular junction synapse of Defhc1.1 mutants displays an increased number of satellite boutons resulting in increased spontaneous neurotransmitter release. Defhc1.1 binds to microtubules in vitro...
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The transient receptor potential M2 channel (TRPM2) is the Ca(2+)-permeable cation channel controlled by cellular redox status via β-NAD(+) and ADP-ribose (ADPR). TRPM2 activity has been reported to underlie susceptibility to cell death and biological processes such as inflammatory cell migration and insulin secretion. However, little is known about the intracellular mechanisms that regulate ox...
متن کاملNovel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy
PURPOSE The purpose of this study was to identify the prevalence of mutations in the Myoclonin1/EFHC1 gene in Mexican patients with juvenile myoclonic epilepsy (JME). METHOD We studied forty-one patients at the National Institute of Neurology and Neurosurgery in Mexico City and 100 healthy controls. DNA was extracted from the peripheral venous blood of all participants. The exons of EFHC1 wer...
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OBJECTIVE Screening for specific coding mutations in the EFHC1 gene has been proposed as a means of assessing susceptibility to juvenile myoclonic epilepsy (JME). To clarify the role of these mutations, especially those reported to be highly penetrant, we sought to measure the frequency of exonic EFHC1 mutations across multiple population samples. METHODS To find and test variants of large ef...
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