ETL6
MCID: EPL124
MIFTS: 15

Epilepsy, Familial Temporal Lobe, 6 (ETL6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 6

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 6:

Name: Epilepsy, Familial Temporal Lobe, 6 58 74
Etl6 58 12
Familial Temporal Lobe Epilepsy 6 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
one family has been reported (as of curation date march, 2014)
onset of temporal lobe seizures between 3 and 46 years
onset of febrile seizures between 6 months and 5 years
good response to treatment:


Classifications:



External Ids:

Disease Ontology 12 DOID:0060749
OMIM 58 615697
UMLS 74 C3810320

Summaries for Epilepsy, Familial Temporal Lobe, 6

Disease Ontology : 12 A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 6, also known as etl6, is related to temporal epilepsy, familial. An important gene associated with Epilepsy, Familial Temporal Lobe, 6 is ETL6 (Epilepsy, Familial Temporal Lobe, 6). Affiliated tissues include temporal lobe.

Description from OMIM: 615697

Related Diseases for Epilepsy, Familial Temporal Lobe, 6

Diseases in the Temporal Lobe Epilepsy family:

Epilepsy, Familial Temporal Lobe, 1 Epilepsy, Familial Temporal Lobe, 2
Epilepsy, Familial Temporal Lobe, 3 Epilepsy, Familial Temporal Lobe, 4
Epilepsy, Familial Temporal Lobe, 5 Epilepsy, Familial Temporal Lobe, 6
Epilepsy, Familial Temporal Lobe, 7 Epilepsy, Familial Temporal Lobe, 8

Diseases related to Epilepsy, Familial Temporal Lobe, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 temporal epilepsy, familial 11.1

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 6

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
partial complex seizures
seizures, partial
aura
rare secondary generalization
febrile seizures (in some patients)

Clinical features from OMIM:

615697

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 6

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 6

Genetic Tests for Epilepsy, Familial Temporal Lobe, 6

Anatomical Context for Epilepsy, Familial Temporal Lobe, 6

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 6:

42
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 6

Variations for Epilepsy, Familial Temporal Lobe, 6

Expression for Epilepsy, Familial Temporal Lobe, 6

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 6.

Pathways for Epilepsy, Familial Temporal Lobe, 6

GO Terms for Epilepsy, Familial Temporal Lobe, 6

Sources for Epilepsy, Familial Temporal Lobe, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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