ETL4
MCID: EPL113
MIFTS: 23

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 57 13 73
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
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, familial temporal lobe, 4:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611631
Disease Ontology 12 DOID:0060753
MedGen 42 C1968847
UMLS 73 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 perrault syndrome 1 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 auditory hallucinations and migraine with aura

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 perrault syndrome 1 11.1
2 temporal epilepsy, familial 11.1

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 4

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 auditory hallucinations 32 HP:0008765
2 migraine with aura 32 HP:0002077
3 focal impaired awareness seizure 32 HP:0002384
4 visual auras 32 HP:0011165
5 focal aware seizure 32 HP:0002349

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 EDN2 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:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 4

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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