Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy
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DOI: 10.1055/a-2067-5096
Abstract: Abstract DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function typically result in familial focal epilepsy with variable foci. Neuroimaging may either… read more here.
Keywords: epilepsy clinical; clinical course; may independent; course may ... See more keywords