ETL4
MCID: EPL113
MIFTS: 22

Epilepsy, Familial Temporal Lobe, 4 (ETL4)

Categories: Ear diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 4

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 4:

Name: Epilepsy, Familial Temporal Lobe, 4 57 13 70
Familial Temporal Lobe Epilepsy 4 12 15
Epolm 57 12
Etl4 57 12
Epilepsy, Occipitotemporal Lobe, and Migraine with Aura; Epolm 57
Epilepsy, Occipitotemporal Lobe, and Migraine with Aura 57
Occipitotemporal Lobe Epilepsy and Migraine with Aura 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset of seizures
mean age at onset of migraines is 42 years
reduced penetrance (75%)


HPO:

31
epilepsy, familial temporal lobe, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060753
OMIM® 57 611631
OMIM Phenotypic Series 57 PS600512
MedGen 41 C1968847
UMLS 70 C1968847

Summaries for Epilepsy, Familial Temporal Lobe, 4

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 4, also known as familial temporal lobe epilepsy 4, is related to migraine with aura and triiodothyronine receptor auxiliary protein. An important gene associated with Epilepsy, Familial Temporal Lobe, 4 is ETL4 (Epilepsy, Occipitotemporal Lobe, And Migraine With Aura). Affiliated tissues include temporal lobe, and related phenotypes are focal impaired awareness seizure and auditory hallucinations

More information from OMIM: 611631 PS600512

Related Diseases for Epilepsy, Familial Temporal Lobe, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 migraine with aura 11.0
2 triiodothyronine receptor auxiliary protein 10.0
3 currarino syndrome 9.7 OTUD1 ARMC3

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 4

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 4:

31
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 31 HP:0002384
2 auditory hallucinations 31 HP:0008765
3 focal aware seizure 31 HP:0002349
4 migraine with aura 31 HP:0002077
5 focal sensory seizure with visual features 31 HP:0011165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
autonomic symptoms
seizures, simple partial
seizures, complex partial
visual symptoms (in 60% of patients)
olfactory or auditory hallucinations
more

Clinical features from OMIM®:

611631 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 4

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 4

Genetic Tests for Epilepsy, Familial Temporal Lobe, 4

Anatomical Context for Epilepsy, Familial Temporal Lobe, 4

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 4:

40
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 4

Articles related to Epilepsy, Familial Temporal Lobe, 4:

# Title Authors PMID Year
1
Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q new evidence for a genetic link between epilepsy and migraine. 57
18332351 2008
2
Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q. 57
17460155 2007
3
A Genetic Screen Identifies Etl4-Deficiency Capable of Stabilizing the Haploidy in Embryonic Stem Cells. 61
33440180 2021
4
Identification of quantitative trait loci influencing inflammation-mediated alveolar bone loss: insights into polygenic inheritance of host-biofilm disequilibria in periodontitis. 61
26126603 2016
5
Generation of an 870 kb deletion encompassing the Skt/Etl4 locus by combination of inter- and intra-chromosomal recombination. 61
26678520 2015

Variations for Epilepsy, Familial Temporal Lobe, 4

Expression for Epilepsy, Familial Temporal Lobe, 4

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 4.

Pathways for Epilepsy, Familial Temporal Lobe, 4

GO Terms for Epilepsy, Familial Temporal Lobe, 4

Sources for Epilepsy, Familial Temporal Lobe, 4

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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