KEGG VARIANT: 9681v1

VARIANT: 9681v1

Entry

9681v1                      Variant

Name

DEPDC5 mutation

Type

Loss of function

Gene

DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit [KO:K20404]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 614191

Network

nt06522 mTOR signaling

Disease

H02214

Familial focal epilepsy with variable foci

Reference

PMID:27173016

Authors

Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S

Title

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

Journal

Epilepsia 57:994-1003 (2016)
DOI:10.1111/epi.13391

Reference

PMID:29359340

Authors

Marsan E, Baulac S

Title

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

Journal

Neuropathol Appl Neurobiol 44:6-17 (2018)
DOI:10.1111/nan.12463

LinkDB

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