ETL4
MCID: EPL113
MIFTS: 25

Epilepsy, Familial Temporal Lobe, 4 (ETL4)

Categories: 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 58 13 74
Familial Temporal Lobe Epilepsy 4 12 15
Epolm 58 12
Etl4 58 12
Epilepsy, Occipitotemporal Lobe, and Migraine with Aura; Epolm 58
Epilepsy, Occipitotemporal Lobe, and Migraine with Aura 58
Occipitotemporal Lobe Epilepsy and Migraine with Aura 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, familial temporal lobe, 4:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060753
OMIM 58 611631
MedGen 43 C1968847
UMLS 74 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 cone-rod dystrophy and hearing loss 2 and temporal epilepsy, familial. 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

Description from OMIM: 611631

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 cone-rod dystrophy and hearing loss 2 11.1
2 temporal epilepsy, familial 11.1

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 4

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

33
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 33 HP:0002384
2 auditory hallucinations 33 HP:0008765
3 migraine with aura 33 HP:0002077
4 visual auras 33 HP:0011165
5 focal aware seizure 33 HP:0002349

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Epilepsy, Familial Temporal Lobe, 4 according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.47 ITGA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.47 ITGA6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.47 PDSS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.47 ITGA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.47 ITGA6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.47 PAX8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.47 ITGA6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.47 PAX8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.47 PAX8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.47 PAX8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.47 PAX8 PDSS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.47 PAX8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.47 PAX8

MGI Mouse Phenotypes related to Epilepsy, Familial Temporal Lobe, 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ITGA6 MDK PAX8 STK39

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:

42
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 4

Articles related to Epilepsy, Familial Temporal Lobe, 4:

# Title Authors Year
1
Generation of an 870 kb deletion encompassing the Skt/Etl4 locus by combination of inter- and intra-chromosomal recombination. ( 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

Biological processes related to Epilepsy, Familial Temporal Lobe, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ventricular septum development GO:0003281 8.62 PAX8 XIRP2

Sources for Epilepsy, Familial Temporal Lobe, 4

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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