ETL2
MCID: EPL115
MIFTS: 38

Epilepsy, Familial Temporal Lobe, 2 (ETL2)

Categories: 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 58 13
Familial Temporal Lobe Epilepsy 2 12 15
Etl2 58 12
Familial Temporal Lobe Epilepsy 60
Temporal Epilepsy, Familial 74
Ftle 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, familial temporal lobe, 2:
Onset and clinical course incomplete penetrance onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060755
OMIM 58 608096
MESH via Orphanet 46 C536956
ICD10 via Orphanet 35 G40.2
UMLS via Orphanet 75 C1842564
Orphanet 60 ORPHA98819
MedGen 43 C1842564
UMLS 74 C1842564

Summaries for Epilepsy, Familial Temporal Lobe, 2

OMIM : 58 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)

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 (KEGG) and TP53 Regulates Metabolic Genes. Affiliated tissues include temporal lobe and skin, and related phenotypes are generalized tonic-clonic seizures and focal impaired awareness seizure

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 all 26)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 7 12.0
2 epilepsy, familial temporal lobe, 1 11.9
3 epilepsy, familial temporal lobe, 3 11.6
4 epilepsy, familial temporal lobe, 4 11.6
5 epilepsy, familial temporal lobe, 5 11.4
6 epilepsy, familial temporal lobe, 6 11.4
7 epilepsy, familial temporal lobe, 8 11.4
8 temporal epilepsy, familial 11.1
9 epilepsy 10.5
10 temporal lobe epilepsy 10.5
11 febrile seizures 10.3
12 genetic recurrent myoglobinuria 10.1 MT-CO1 MT-CO3
13 myoglobinuria 10.1 MT-CO1 MT-CO3
14 leber optic atrophy 10.0 MT-CO1 MT-CO3
15 deafness, nonsyndromic sensorineural, mitochondrial 10.0 MT-CO1 MT-CO3
16 choreoacanthocytosis 10.0
17 glioma 10.0
18 rapidly involuting congenital hemangioma 10.0
19 familial colorectal cancer 9.9 MT-CO1 MT-CO3
20 immunodeficiency due to a classical component pathway complement deficiency 9.8 C4A C4B
21 juvenile dermatitis herpetiformis 9.8 C4A C4B
22 pediatric systemic lupus erythematosus 9.8 C4A C4B
23 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 MT-CO1 MT-CO3
24 hypersensitivity reaction type iii disease 9.8 C4A C4B
25 indeterminate leprosy 9.7 C4A C4B
26 autoimmune disease of musculoskeletal system 9.7 C4A C4B

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:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 focal impaired awareness seizure 33 HP:0002384
3 febrile seizures 33 HP:0002373
4 status epilepticus 33 HP:0002133
5 focal aware seizure 33 HP:0002349

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Epilepsy, Familial Temporal Lobe, 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.28 PRDM16
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.28 PRDM16
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.28 PRDM16
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.28 C4A C4B PRDM16
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.28 PRDM16
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.28 C4A C4B

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:

42
Temporal Lobe, Skin

Publications for Epilepsy, Familial Temporal Lobe, 2

Articles related to Epilepsy, Familial Temporal Lobe, 2:

(show all 14)
# Title Authors Year
1
A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy. ( 30284771 )
2018
2
Familial temporal lobe epilepsy in the 19th century. ( 29172094 )
2018
3
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. ( 26216793 )
2015
4
Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa. ( 26362388 )
2015
5
A new locus for familial temporal lobe epilepsy on chromosome 3q. ( 24021842 )
2013
6
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. ( 21444903 )
2011
7
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
8
Familial temporal lobe epilepsy with auditory features. ( 16359474 )
2005
9
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. ( 15342703 )
2004
10
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. ( 14623726 )
2003
11
Familial temporal lobe epilepsy with febrile seizures. ( 12011300 )
2002
12
Idiopathic familial temporal lobe epilepsy with febrile convulsions. ( 11888255 )
2002
13
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. ( 12205652 )
2002
14
Etl2, a novel putative type-I cytokine receptor expressed during mouse embryogenesis at high levels in skin and cells with skeletogenic potential. ( 7813775 )
1994

Variations for Epilepsy, Familial Temporal Lobe, 2

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

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 GRCh37 Chromosome 8, 68421795: 68421795
2 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 GRCh38 Chromosome 8, 67509560: 67509560
3 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 NCBI36 Chromosome 8, 68584349: 68584349
4 CPA6 NM_020361.4(CPA6): c.133T> C (p.Phe45Leu) single nucleotide variant Benign/Likely benign rs10957393 GRCh37 Chromosome 8, 68536470: 68536470
5 CPA6 NM_020361.4(CPA6): c.133T> C (p.Phe45Leu) single nucleotide variant Benign/Likely benign rs10957393 GRCh38 Chromosome 8, 67624235: 67624235
6 CPA6 NM_020361.4(CPA6): c.518C> G (p.Ser173Cys) single nucleotide variant Benign/Likely benign rs17853192 GRCh37 Chromosome 8, 68421768: 68421768
7 CPA6 NM_020361.4(CPA6): c.518C> G (p.Ser173Cys) single nucleotide variant Benign/Likely benign rs17853192 GRCh38 Chromosome 8, 67509533: 67509533
8 CPA6 NM_020361.4(CPA6): c.746A> G (p.Asn249Ser) single nucleotide variant Benign/Likely benign rs17343819 GRCh37 Chromosome 8, 68396915: 68396915
9 CPA6 NM_020361.4(CPA6): c.746A> G (p.Asn249Ser) single nucleotide variant Benign/Likely benign rs17343819 GRCh38 Chromosome 8, 67484680: 67484680
10 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh37 Chromosome 8, 68423825: 68423825
11 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh38 Chromosome 8, 67511590: 67511590
12 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh37 Chromosome 8, 68346339: 68346339
13 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh38 Chromosome 8, 67434104: 67434104
14 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh38 Chromosome 8, 67422530: 67422530
15 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh37 Chromosome 8, 68334765: 68334765
16 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs60236534 GRCh38 Chromosome 8, 67422706: 67422706
17 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs60236534 GRCh37 Chromosome 8, 68334941: 68334941
18 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh37 Chromosome 8, 68346293: 68346293
19 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh38 Chromosome 8, 67434058: 67434058
20 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh37 Chromosome 8, 68658267: 68658267
21 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh38 Chromosome 8, 67746032: 67746032
22 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh37 Chromosome 8, 68658584: 68658586
23 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh38 Chromosome 8, 67746349: 67746351
24 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh38 Chromosome 8, 67422176: 67422176
25 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh37 Chromosome 8, 68334411: 68334411
26 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh38 Chromosome 8, 67428034: 67428034
27 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh37 Chromosome 8, 68340269: 68340269
28 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh37 Chromosome 8, 68346382: 68346382
29 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh38 Chromosome 8, 67434147: 67434147
30 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh37 Chromosome 8, 68396044: 68396044
31 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh38 Chromosome 8, 67483809: 67483809
32 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh37 Chromosome 8, 68419120: 68419120
33 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh38 Chromosome 8, 67506885: 67506885
34 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh37 Chromosome 8, 68658256: 68658256
35 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh38 Chromosome 8, 67746021: 67746021
36 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh37 Chromosome 8, 68658374: 68658375
37 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh38 Chromosome 8, 67746139: 67746140
38 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh37 Chromosome 8, 68658440: 68658440
39 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh38 Chromosome 8, 67746205: 67746205
40 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh38 Chromosome 8, 67422244: 67422244
41 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh37 Chromosome 8, 68334479: 68334479
42 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh37 Chromosome 8, 68340331: 68340331
43 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh38 Chromosome 8, 67428096: 67428096
44 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh37 Chromosome 8, 68396050: 68396050
45 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh38 Chromosome 8, 67483815: 67483815
46 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh37 Chromosome 8, 68658409: 68658409
47 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh38 Chromosome 8, 67746174: 67746174
48 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh37 Chromosome 8, 68658524: 68658524
49 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh38 Chromosome 8, 67746289: 67746289
50 CPA6 NM_020361.4(CPA6): c.*242T> C single nucleotide variant Uncertain significance rs527673781 GRCh38 Chromosome 8, 67422262: 67422262

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.7 CNTF IL11 IL11RA
2 11.36 MT-CO1 MT-CO3
3 11.3 MT-CO1 MT-CO3
4 11.25 C4A C4B
5 11.15 C4A C4B
6 10.94 CNTF IL11
7 10.6 IL11 IL11RA
8
Show member pathways
10.56 CNTF IL11 IL11RA

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 axon GO:0030424 9.33 C4A C4B CNTF
2 mitochondrial respiratory chain complex IV GO:0005751 8.65 MT-CO1
3 respiratory chain complex IV GO:0045277 8.62 MT-CO1 MT-CO3

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 9.43 CNTF IL11 IL11RA
2 aerobic respiration GO:0009060 9.16 MT-CO1 MT-CO3
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 MT-CO1 MT-CO3
4 positive regulation of apoptotic cell clearance GO:2000427 8.62 C4A C4B

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.96 C4A C4B
2 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO1 MT-CO3

Sources for Epilepsy, Familial Temporal Lobe, 2

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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