ETL2
MCID: EPL115
MIFTS: 35

Epilepsy, Familial Temporal Lobe, 2 (ETL2)

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

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 2

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 2:

Name: Epilepsy, Familial Temporal Lobe, 2 57 13
Familial Temporal Lobe Epilepsy 2 12 6 15
Etl2 57 12
Familial Temporal Lobe Epilepsy 58
Temporal Epilepsy, Familial 70
Ftle 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
reduced penetrance
onset in childhood or early adulthood


HPO:

31
epilepsy, familial temporal lobe, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course onset incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060755
OMIM® 57 608096
OMIM Phenotypic Series 57 PS600512
MESH via Orphanet 45 C536956
ICD10 via Orphanet 33 G40.2
UMLS via Orphanet 71 C1842564
Orphanet 58 ORPHA98819
MedGen 41 C4759869
UMLS 70 C1842564

Summaries for Epilepsy, Familial Temporal Lobe, 2

OMIM® : 57 Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras (Berkovic et al., 1996). For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512). (608096) (Updated 05-Apr-2021)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 2, also known as familial temporal lobe epilepsy 2, is related to epilepsy, familial temporal lobe, 7 and epilepsy, familial temporal lobe, 1. An important gene associated with Epilepsy, Familial Temporal Lobe, 2 is ETL2 (Epilepsy, Familial Temporal Lobe), and among its related pathways/superpathways are JAK-STAT signaling pathway and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include temporal lobe and skin, and related phenotypes are focal impaired awareness seizure and status epilepticus

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.

Related Diseases for Epilepsy, Familial Temporal Lobe, 2

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 7 11.8
2 epilepsy, familial temporal lobe, 1 11.7
3 epilepsy, familial temporal lobe, 3 11.5
4 epilepsy, familial temporal lobe, 5 11.5
5 epilepsy, familial temporal lobe, 6 11.5
6 epilepsy, familial temporal lobe, 4 11.5
7 epilepsy, familial temporal lobe, 8 11.5
8 temporal epilepsy, familial 11.0
9 temporal lobe epilepsy 10.7
10 epilepsy 10.5
11 seizure disorder 10.5
12 focal epilepsy 10.4
13 autosomal dominant epilepsy with auditory features 10.4
14 aphasia 10.3
15 febrile seizures 10.3
16 juvenile dermatitis herpetiformis 10.3 C4B C4A
17 immunodeficiency due to a classical component pathway complement deficiency 10.3 C4B C4A
18 hypertelorism, microtia, facial clefting syndrome 10.3 IL11RA IL11
19 louse-borne relapsing fever 10.3 C4B C4A
20 tick-borne relapsing fever 10.3 C4B C4A
21 radial nerve lesion 10.2 TNFSF15 CNTF
22 epilepsy, partial, familial 10.2
23 glioma 10.2
24 hereditary angioedema 10.1 XPNPEP2 C4B C4A
25 angioedema 10.1 XPNPEP2 C4B C4A
26 post-transplant lymphoproliferative disease 10.1 TNFSF10 IL6
27 complement factor i deficiency 10.1 C4B C4A
28 acanthocephaliasis 10.1 MT-CO1 ALB
29 dipetalonemiasis 10.1 MT-CO1 ALB
30 pediatric systemic lupus erythematosus 10.1 C4B C4A
31 suppurative periapical periodontitis 10.0 IL6 DSPP
32 abetalipoproteinemia 10.0
33 choreoacanthocytosis 10.0
34 ataxia and polyneuropathy, adult-onset 10.0
35 epilepsy, familial focal, with variable foci 1 10.0
36 autosomal recessive disease 10.0
37 rapidly involuting congenital hemangioma 10.0
38 gastritis 10.0
39 depdc5-related epilepsy 10.0
40 glial tumor 10.0
41 root caries 9.9 DSPP ALB
42 bacterial conjunctivitis 9.9 IL6 ALB
43 generalized atherosclerosis 9.9 IL6 ALB
44 acute cholangitis 9.9 IL6 ALB
45 coronary aneurysm 9.9 IL6 ALB
46 hemolytic uremic syndrome, atypical 1 9.9 C4B C4A ALB
47 diverticulitis 9.9 TNFSF15 IL6 ALB
48 lung abscess 9.9 IL6 ALB
49 testicular disease 9.8 TNFSF15 IL6 ALB
50 leprosy 3 9.8 TNFSF15 IL6 ALB

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 2:



Diseases related to Epilepsy, Familial Temporal Lobe, 2

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 2

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 2:

31
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 31 HP:0002384
2 status epilepticus 31 HP:0002133
3 focal aware seizure 31 HP:0002349
4 bilateral tonic-clonic seizure 31 HP:0002069
5 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
complex partial seizures
simple partial seizures
febrile seizures (usually remit by age 6 years)
status epilepticus rarely occurs
more

Clinical features from OMIM®:

608096 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 2

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 2

Genetic Tests for Epilepsy, Familial Temporal Lobe, 2

Anatomical Context for Epilepsy, Familial Temporal Lobe, 2

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 2:

40
Temporal Lobe, Skin

Publications for Epilepsy, Familial Temporal Lobe, 2

Articles related to Epilepsy, Familial Temporal Lobe, 2:

(show all 16)
# Title Authors PMID Year
1
Dysfunction of GABAA receptor glycolysis-dependent modulation in human partial epilepsy. 57
17360668 2007
2
Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3. 57
16972079 2007
3
Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of patients with mesial temporal lobe epilepsy. 57
15592755 2004
4
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. 57
15342703 2004
5
Acquired dendritic channelopathy in temporal lobe epilepsy. 57
15273397 2004
6
Death-associated protein kinase expression in human temporal lobe epilepsy. 57
15048887 2004
7
Familial temporal lobe epilepsy with febrile seizures. 57
12011300 2002
8
Clinical and genetic heterogeneity in familial temporal lobe epilepsy. 57
12121308 2002
9
Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy. 57
10642040 2000
10
Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. 57
9484399 1998
11
Familial temporal lobe epilepsy: a common disorder identified in twins. 57
8773604 1996
12
Genes for epilepsy mapped in the mouse. 57
1871601 1991
13
Synthesis, magnetic properties, and phosphoesterase activity of dinuclear cobalt(II) complexes. 61
23374019 2013
14
Isolation and partial characterization of N-acetyl-D-galactosamine-binding lectins from Epiphragmophora trenquelleonis snail. 61
8882733 1996
15
Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13. 61
8808281 1996
16
Etl2, a novel putative type-I cytokine receptor expressed during mouse embryogenesis at high levels in skin and cells with skeletogenic potential. 61
7813775 1994

Variations for Epilepsy, Familial Temporal Lobe, 2

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPA6 NM_020361.5(CPA6):c.-11_-10del Deletion Uncertain significance 363615 rs531326049 GRCh37: 8:68658374-68658375
GRCh38: 8:67746139-67746140
2 CPA6 NM_020361.5(CPA6):c.-160del Deletion Uncertain significance 363618 rs796925267 GRCh37: 8:68658524-68658524
GRCh38: 8:67746289-67746289
3 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1127-25_1127-24dup Duplication Uncertain significance 363601 rs60236534 GRCh37: 8:68334940-68334941
GRCh38: 8:67422705-67422706
4 CPA6 NM_020361.4(CPA6):c.-222_-220delGCT Microsatellite Uncertain significance 363619 rs144013159 GRCh37: 8:68658584-68658586
GRCh38: 8:67746349-67746351
5 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.1127-25dup Duplication Uncertain significance 363600 rs60236534 GRCh37: 8:68334940-68334941
GRCh38: 8:67422705-67422706
6 CPA6 NM_020361.4(CPA6):c.-269G>A SNV Likely benign 369613 rs2553663 GRCh37: 8:68658633-68658633
GRCh38: 8:67746398-67746398

Expression for Epilepsy, Familial Temporal Lobe, 2

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 2.

Pathways for Epilepsy, Familial Temporal Lobe, 2

GO Terms for Epilepsy, Familial Temporal Lobe, 2

Cellular components related to Epilepsy, Familial Temporal Lobe, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 TPI1 TNFSF15 TNFSF10 IL6 IL11 CNTF
2 extracellular region GO:0005576 9.4 XPNPEP2 TNFSF15 TNFSF10 THY1 IL6 IL11RA

Biological processes related to Epilepsy, Familial Temporal Lobe, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.26 IL6 IL11RA IL11 CNTF
2 positive regulation of apoptotic cell clearance GO:2000427 8.62 C4B C4A

Molecular functions related to Epilepsy, Familial Temporal Lobe, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.02 TNFSF15 TNFSF10 IL6 IL11 CNTF
2 interleukin-6 receptor binding GO:0005138 8.96 IL6 CNTF

Sources for Epilepsy, Familial Temporal Lobe, 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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