MCID: DPD002
MIFTS: 11

Depdc5-Related Epilepsy

Categories: Rare diseases

Aliases & Classifications for Depdc5-Related Epilepsy

MalaCards integrated aliases for Depdc5-Related Epilepsy:

Name: Depdc5-Related Epilepsy 24 53

Characteristics:

GeneReviews:

24
Penetrance Asymptomatic heterozygotes are common in families with depdc5-related epilepsy....

Classifications:



Summaries for Depdc5-Related Epilepsy

MalaCards based summary : Depdc5-Related Epilepsy is related to focal epilepsy and epilepsy, familial focal, with variable foci 1. An important gene associated with Depdc5-Related Epilepsy is DEPDC5 (DEP Domain Containing 5). Affiliated tissues include brain and temporal lobe.

GeneReviews: NBK385626

Related Diseases for Depdc5-Related Epilepsy

Diseases related to Depdc5-Related Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal epilepsy 10.3
2 epilepsy, familial focal, with variable foci 1 10.2
3 epilepsy, familial temporal lobe, 3 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 west syndrome 10.2
6 autism spectrum disorder 10.2
7 autosomal dominant nocturnal frontal lobe epilepsy 10.2
8 epilepsy 10.2
9 autosomal dominant epilepsy with auditory features 10.2

Graphical network of the top 20 diseases related to Depdc5-Related Epilepsy:



Diseases related to Depdc5-Related Epilepsy

Symptoms & Phenotypes for Depdc5-Related Epilepsy

Drugs & Therapeutics for Depdc5-Related Epilepsy

Search Clinical Trials , NIH Clinical Center for Depdc5-Related Epilepsy

Genetic Tests for Depdc5-Related Epilepsy

Anatomical Context for Depdc5-Related Epilepsy

MalaCards organs/tissues related to Depdc5-Related Epilepsy:

41
Brain, Temporal Lobe

Publications for Depdc5-Related Epilepsy

Articles related to Depdc5-Related Epilepsy:

(show all 38)
# Title Authors PMID Year
1
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 4
27159400 2016
2
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 4
27173016 2016
3
Depdc5 knockout rat: A novel model of mTORopathy. 4
26873552 2016
4
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 4
26704558 2016
5
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. 4
26786403 2016
6
DEPDC5 mutations in epilepsy with auditory features. 4
26849478 2016
7
mTOR signaling pathway genes in focal epilepsies. 4
27323939 2016
8
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 4
26505888 2016
9
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. 4
26285051 2016
10
Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. 4
27066565 2015
11
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. 4
26216793 2015
12
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 4
26018084 2015
13
Epileptic spasms are a feature of DEPDC5 mTORopathy. 4
27066554 2015
14
Epilepsy with auditory features: A heterogeneous clinico-molecular disease. 4
27066544 2015
15
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 4
25878179 2015
16
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. 4
26000329 2015
17
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 4
25599672 2015
18
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. 4
25623524 2015
19
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 4
25799227 2015
20
Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras. 4
25616465 2015
21
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. 4
25366275 2015
22
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. 4
24283814 2014
23
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 4
24814846 2014
24
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 4
24585383 2014
25
DEPDC5 mutations in genetic focal epilepsies of childhood. 4
24591017 2014
26
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. 4
25194481 2014
27
Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. 4
24672426 2014
28
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. 4
25194487 2014
29
Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the Rag family GTPase Gtr1. 4
23716719 2013
30
A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. 4
23723238 2013
31
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 4
23542697 2013
32
Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 4
23542701 2013
33
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 4
23086396 2012
34
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 4
19191227 2009
35
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. 4
15090473 2004
36
Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. 38
31174205 2019
37
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. 38
29274432 2018
38
DEPDC5-Related Epilepsy 38
27683934 2016

Variations for Depdc5-Related Epilepsy

Expression for Depdc5-Related Epilepsy

Search GEO for disease gene expression data for Depdc5-Related Epilepsy.

Pathways for Depdc5-Related Epilepsy

GO Terms for Depdc5-Related Epilepsy

Sources for Depdc5-Related Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....