Condition: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
rs1261611694 in
DEPDC5 gene and
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
PMID 23542701 2013 Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
PMID 24283814 2014 A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.
PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
PMID 24591017 2014 DEPDC5 mutations in genetic focal epilepsies of childhood.
PMID 25366275 2015 Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
PMID 27173016 2016 Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
PMID 26704558 2016 Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
PMID 25623524 2015 Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
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 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
PMID 27066554 2015 Epileptic spasms are a feature of DEPDC5 mTORopathy.
PMID 27066565 2015 Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.
PMID 26216793 2015 DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
PMID 27066544 2015 Epilepsy with auditory features: A heterogeneous clinico-molecular disease.
PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.