ETL6
MCID: EPL124
MIFTS: 18

Epilepsy, Familial Temporal Lobe, 6 (ETL6)

Categories: Ear diseases, 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 57 70
Familial Temporal Lobe Epilepsy 6 12 15
Etl6 57 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial temporal lobe, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060749
OMIM® 57 615697
OMIM Phenotypic Series 57 PS600512
MedGen 41 C3810320
SNOMED-CT via HPO 68 263681008 41497008
UMLS 70 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 familial temporal lobe epilepsy 6, is related to polycystic kidney disease. An important gene associated with Epilepsy, Familial Temporal Lobe, 6 is ETL6 (Epilepsy, Familial Temporal Lobe, 6). Affiliated tissues include temporal lobe and kidney, and related phenotype is febrile seizure (within the age range of 3 months to 6 years).

More information from OMIM: 615697 PS600512

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 polycystic kidney disease 9.5 VCAM1 ERBB2

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 6

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 6:

31
# Description HPO Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
partial complex seizures
seizures, partial
aura
rare secondary generalization
febrile seizures (in some patients)

Clinical features from OMIM®:

615697 (Updated 20-May-2021)

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:

40
Temporal Lobe, Kidney

Publications for Epilepsy, Familial Temporal Lobe, 6

Articles related to Epilepsy, Familial Temporal Lobe, 6:

# Title Authors PMID Year
1
A new locus for familial temporal lobe epilepsy on chromosome 3q. 57
24021842 2013

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

Cellular components related to Epilepsy, Familial Temporal Lobe, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 8.62 VCAM1 ERBB2

Sources for Epilepsy, Familial Temporal Lobe, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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