MCID: EPL115
MIFTS: 34

Epilepsy, Familial Temporal Lobe, 2

Categories: Neuronal diseases, Rare diseases, Genetic 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
Familial Temporal Lobe Epilepsy 2 12 15
Etl2 57 12
Familial Temporal Lobe Epilepsy 59
Temporal Epilepsy, Familial 73
Ftle 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, familial temporal lobe, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course onset incomplete penetrance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608096
Disease Ontology 12 DOID:0060755
Orphanet 59 ORPHA98819
ICD10 via Orphanet 34 G40.2
UMLS via Orphanet 74 C1842564
MESH via Orphanet 45 C536956
MedGen 42 C1842564
UMLS 73 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)

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 temporal epilepsy, familial. An important gene associated with Epilepsy, Familial Temporal Lobe, 2 is ETL2 (Epilepsy, Familial Temporal Lobe), and among its related pathways/superpathways are Regulation of IFNA signaling and Staphylococcus aureus infection. Affiliated tissues include temporal lobe, and related phenotypes are generalized tonic-clonic seizures and focal seizures without impairment of consciousness or awareness

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

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

608096

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

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 focal seizures without impairment of consciousness or awareness 32 HP:0002349
3 febrile seizures 32 HP:0002373
4 focal seizures with impairment of consciousness or awareness 32 HP:0002384

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:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 2

Articles related to Epilepsy, Familial Temporal Lobe, 2:

# Title Authors Year
1
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. ( 26216793 )
2015
2
A new locus for familial temporal lobe epilepsy on chromosome 3q. ( 24021842 )
2013
3
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. ( 21444903 )
2011
4
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
5
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. ( 15342703 )
2004
6
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. ( 14623726 )
2003
7
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. ( 12205652 )
2002
8
Familial temporal lobe epilepsy with febrile seizures. ( 12011300 )
2002

Variations for Epilepsy, Familial Temporal Lobe, 2

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

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh37 Chromosome 8, 68423825: 68423825
2 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh38 Chromosome 8, 67511590: 67511590
3 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh37 Chromosome 8, 68346339: 68346339
4 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh38 Chromosome 8, 67434104: 67434104
5 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh37 Chromosome 8, 68334765: 68334765
6 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh38 Chromosome 8, 67422530: 67422530
7 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs763760847 GRCh37 Chromosome 8, 68334941: 68334941
8 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs763760847 GRCh38 Chromosome 8, 67422706: 67422706
9 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh37 Chromosome 8, 68346293: 68346293
10 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh38 Chromosome 8, 67434058: 67434058
11 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh37 Chromosome 8, 68658267: 68658267
12 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh38 Chromosome 8, 67746032: 67746032
13 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh38 Chromosome 8, 67746349: 67746351
14 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh37 Chromosome 8, 68658584: 68658586
15 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh38 Chromosome 8, 67422176: 67422176
16 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh37 Chromosome 8, 68334411: 68334411
17 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh37 Chromosome 8, 68340269: 68340269
18 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh38 Chromosome 8, 67428034: 67428034
19 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh37 Chromosome 8, 68346382: 68346382
20 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh38 Chromosome 8, 67434147: 67434147
21 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh37 Chromosome 8, 68396044: 68396044
22 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh38 Chromosome 8, 67483809: 67483809
23 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh37 Chromosome 8, 68419120: 68419120
24 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh38 Chromosome 8, 67506885: 67506885
25 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh37 Chromosome 8, 68658256: 68658256
26 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh38 Chromosome 8, 67746021: 67746021
27 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh37 Chromosome 8, 68658374: 68658375
28 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh38 Chromosome 8, 67746139: 67746140
29 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh37 Chromosome 8, 68658440: 68658440
30 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh38 Chromosome 8, 67746205: 67746205
31 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh37 Chromosome 8, 68334479: 68334479
32 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh38 Chromosome 8, 67422244: 67422244
33 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh37 Chromosome 8, 68340331: 68340331
34 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh38 Chromosome 8, 67428096: 67428096
35 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh37 Chromosome 8, 68396050: 68396050
36 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh38 Chromosome 8, 67483815: 67483815
37 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh37 Chromosome 8, 68658409: 68658409
38 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh38 Chromosome 8, 67746174: 67746174
39 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh37 Chromosome 8, 68658524: 68658524
40 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh38 Chromosome 8, 67746289: 67746289
41 CPA6 NM_020361.4(CPA6): c.*242T> C single nucleotide variant Uncertain significance rs527673781 GRCh37 Chromosome 8, 68334497: 68334497
42 CPA6 NM_020361.4(CPA6): c.*242T> C single nucleotide variant Uncertain significance rs527673781 GRCh38 Chromosome 8, 67422262: 67422262
43 CPA6 NM_020361.4(CPA6): c.1127-16_1127-15dupTT duplication Uncertain significance rs763760847 GRCh37 Chromosome 8, 68334941: 68334942
44 CPA6 NM_020361.4(CPA6): c.1127-16_1127-15dupTT duplication Uncertain significance rs763760847 GRCh38 Chromosome 8, 67422706: 67422707
45 CPA6 NM_020361.4(CPA6): c.715A> G (p.Asn239Asp) single nucleotide variant Uncertain significance rs886063079 GRCh37 Chromosome 8, 68396946: 68396946
46 CPA6 NM_020361.4(CPA6): c.715A> G (p.Asn239Asp) single nucleotide variant Uncertain significance rs886063079 GRCh38 Chromosome 8, 67484711: 67484711
47 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh37 Chromosome 8, 68421781: 68421781
48 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh38 Chromosome 8, 67509546: 67509546
49 CPA6 NM_020361.4(CPA6): c.326T> C (p.Ile109Thr) single nucleotide variant Uncertain significance rs151119622 GRCh37 Chromosome 8, 68423882: 68423882
50 CPA6 NM_020361.4(CPA6): c.326T> C (p.Ile109Thr) single nucleotide variant Uncertain significance rs151119622 GRCh38 Chromosome 8, 67511647: 67511647

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 mitochondrial respiratory chain complex IV GO:0005751 8.96 MT-CO1 MT-CO3
2 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 9.5 CNTF IL11 IL11RA
2 aerobic respiration GO:0009060 9.26 MT-CO1 MT-CO3
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.16 MT-CO1 MT-CO3
4 respiratory electron transport chain GO:0022904 8.96 MT-CO1 MT-CO3
5 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 SMAD binding GO:0046332 9.16 PARP1 PRDM16
2 endopeptidase inhibitor activity GO:0004866 8.96 C4A C4B
3 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 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
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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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