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Epilepsy mutation studies

The disruption of C1C-2 in mice leads to male infertility, blindness, and leukodystrophy, and was attributed to defective extracellular ion homeostasis in narrow clefts. C1C-2 yields currents that slowly activate upon hyperpolarization. It is also activated by cell swelling and by extracellular acidification. Structural determinants that are essential for these types of activation were identified by mutagenesis. There is a report that C1C-2 might be mutated in human epilepsy, but this has not been confirmed in fiuther studies. [Pg.372]

See other pages where Epilepsy mutation studies is mentioned: [Pg.112]    [Pg.112]    [Pg.127]    [Pg.826]    [Pg.337]    [Pg.338]    [Pg.100]    [Pg.31]    [Pg.225]    [Pg.239]    [Pg.533]    [Pg.127]    [Pg.826]    [Pg.766]    [Pg.767]    [Pg.1535]    [Pg.110]    [Pg.124]    [Pg.372]    [Pg.110]    [Pg.124]    [Pg.295]    [Pg.85]    [Pg.151]    [Pg.88]    [Pg.226]   
See also in sourсe #XX -- [ Pg.637 ]



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Epilepsies

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