Condition: Epilepsy, Partial, with Variable Foci


rs1060501488 in DEPDC5 gene and Epilepsy, Partial, with Variable Foci PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

PMID 23542701 2013 Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 24814846 2014 DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

PMID 24585383 2014 Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

PMID 28199897 2017 Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

PMID 26704558 2016 Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

PMID 27066554 2015 Epileptic spasms are a feature of DEPDC5 mTORopathy.