ETL1
MCID: EPL114
MIFTS: 41

Epilepsy, Familial Temporal Lobe, 1 (ETL1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 1

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 1:

Name: Epilepsy, Familial Temporal Lobe, 1 58 76 13
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 58 30 6 74
Adpeaf 58 76 56
Etl1 58 12 76
Partial Epilepsy with Auditory Features 12 76
Familial Temporal Lobe Epilepsy 1 12 15
Adlte 58 76
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Adlte 58
Epilepsy, Partial, with Auditory Features; Adpeaf 58
Lateral Temporal Lobe Epilepsy Autosomal Dominant 76
Epilepsy, Partial, with Auditory Features 58
Epilepsy, Temporal Lobe, Familial, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age at onset from 3 to 51 years (mean 19.2 years)
reduced penetrance (approximately 54%)


HPO:

33
epilepsy, familial temporal lobe, 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060748
OMIM 58 600512
MeSH 45 D004833
UMLS 74 C1838062

Summaries for Epilepsy, Familial Temporal Lobe, 1

OMIM : 58 Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). (600512)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 1, also known as epilepsy, lateral temporal lobe, autosomal dominant, is related to autosomal dominant epilepsy with auditory features and autosomal dominant partial epilepsy with auditory features. An important gene associated with Epilepsy, Familial Temporal Lobe, 1 is LGI1 (Leucine Rich Glioma Inactivated 1), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and Chromatin Regulation / Acetylation. Affiliated tissues include temporal lobe, and related phenotypes are focal impaired awareness seizure and generalized tonic-clonic seizures with focal onset

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has material basis in heterozygous mutation in the LGI1 gene on chromosome 10q24.

UniProtKB/Swiss-Prot : 76 Epilepsy, familial temporal lobe, 1: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.

Related Diseases for Epilepsy, Familial Temporal Lobe, 1

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 1:



Diseases related to Epilepsy, Familial Temporal Lobe, 1

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 1

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 1:

33
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 33 HP:0002384
2 generalized tonic-clonic seizures with focal onset 33 HP:0007334
3 focal aware seizure 33 HP:0002349
4 focal sensory auditory seizure 33 HP:0011158

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
complex partial seizures
temporal lobe epilepsy
simple partial seizures
secondary generalized tonic clonic seizures
auditory auras
more

Clinical features from OMIM:

600512

GenomeRNAi Phenotypes related to Epilepsy, Familial Temporal Lobe, 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 9.02 ADAM22 LGI3 MICAL1 SMARCA2 SMARCA4

MGI Mouse Phenotypes related to Epilepsy, Familial Temporal Lobe, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 ADAM22 BTAF1 LGI1 LGI4 RELN SMARCA2
2 muscle MP:0005369 9.02 BTAF1 LGI4 RELN SMARCA2 SMARCA4

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 1

Genetic Tests for Epilepsy, Familial Temporal Lobe, 1

Genetic tests related to Epilepsy, Familial Temporal Lobe, 1:

# Genetic test Affiliating Genes
1 Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 30 LGI1 MICAL1 RELN

Anatomical Context for Epilepsy, Familial Temporal Lobe, 1

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 1:

42
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 1

Articles related to Epilepsy, Familial Temporal Lobe, 1:

(show all 21)
# Title Authors Year
1
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. ( 24579982 )
2014
2
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). ( 24721199 )
2014
3
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. ( 22496201 )
2012
4
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 18711109 )
2008
5
Altered language processing in autosomal dominant partial epilepsy with auditory features. ( 19064878 )
2008
6
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. ( 18625862 )
2008
7
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. ( 17562837 )
2007
8
Two novel epilepsy-linked mutations leading to a loss of function of LGI1. ( 17296837 )
2007
9
LGI1 gene mutation screening in sporadic partial epilepsy with auditory features. ( 15654555 )
2005
10
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. ( 15857855 )
2005
11
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 15079011 )
2004
12
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. ( 15090473 )
2004
13
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. ( 15349881 )
2004
14
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. ( 12771268 )
2003
15
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. ( 12601709 )
2003
16
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. ( 11810107 )
2002
17
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. ( 11879388 )
2002
18
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. ( 11978770 )
2002
19
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. ( 12205652 )
2002
20
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. ( 10851389 )
2000
21
Autosomal dominant partial epilepsy with auditory features: description of a new family. ( 10961622 )
2000

Variations for Epilepsy, Familial Temporal Lobe, 1

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 1:

76 (show all 17)
# Symbol AA change Variation ID SNP ID
1 LGI1 p.Leu26Arg VAR_015771
2 LGI1 p.Cys46Arg VAR_015772 rs104894166
3 LGI1 p.Glu383Ala VAR_015773 rs28937874
4 LGI1 p.Phe318Cys VAR_015774 rs28939075
5 LGI1 p.Cys42Gly VAR_023008 rs797044996
6 LGI1 p.Ser473Leu VAR_023009 rs797044999
7 LGI1 p.Cys42Arg VAR_058538 rs797044996
8 LGI1 p.Ala110Asp VAR_058539
9 LGI1 p.Ile122Lys VAR_058540 rs119488100
10 LGI1 p.Glu123Lys VAR_058541
11 LGI1 p.Arg136Trp VAR_058542 rs119488099
12 LGI1 p.Ser145Arg VAR_058543
13 LGI1 p.Leu154Pro VAR_058544
14 LGI1 p.Cys200Arg VAR_058545
15 LGI1 p.Leu232Pro VAR_058546 rs104894167
16 LGI1 p.Ile298Thr VAR_058547
17 LGI1 p.Val432Glu VAR_058548

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 1:

6 (show top 50) (show all 213)
# Gene Variation Type Significance SNP ID Assembly Location
1 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh37 Chromosome 10, 95557034: 95557034
2 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh38 Chromosome 10, 93797277: 93797277
3 LGI1 LGI1, 1-BP DEL, 835C deletion Pathogenic
4 LGI1 LGI1, IVS3AS, C-A, -3 single nucleotide variant Pathogenic
5 LGI1 NM_005097.3(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 GRCh37 Chromosome 10, 95518037: 95518037
6 LGI1 NM_005097.3(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 GRCh38 Chromosome 10, 93758280: 93758280
7 LGI1 LGI1, 1320C-T single nucleotide variant Pathogenic
8 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh37 Chromosome 10, 95556839: 95556839
9 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh38 Chromosome 10, 93797082: 93797082
10 LGI1 LGI1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
11 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh37 Chromosome 10, 95552964: 95552964
12 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh38 Chromosome 10, 93793207: 93793207
13 LGI1 NM_005097.2(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh37 Chromosome 10, 95537349: 95537349
14 LGI1 NM_005097.2(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh38 Chromosome 10, 93777592: 93777592
15 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh37 Chromosome 10, 95537308: 95537308
16 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh38 Chromosome 10, 93777551: 93777551
17 LGI1 LGI1, 81-KB DEL deletion Pathogenic
18 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh37 Chromosome 7, 103629665: 103629665
19 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh38 Chromosome 7, 103989218: 103989218
20 RELN NM_005045.3(RELN): c.2446C> T (p.Leu816Phe) single nucleotide variant Uncertain significance rs144653976 GRCh37 Chromosome 7, 103275891: 103275891
21 RELN NM_005045.3(RELN): c.2446C> T (p.Leu816Phe) single nucleotide variant Uncertain significance rs144653976 GRCh38 Chromosome 7, 103635444: 103635444
22 RELN NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser) single nucleotide variant Uncertain significance rs115577014 GRCh37 Chromosome 7, 103214713: 103214713
23 RELN NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser) single nucleotide variant Uncertain significance rs115577014 GRCh38 Chromosome 7, 103574266: 103574266
24 RELN NM_005045.3(RELN): c.5711C> T (p.Thr1904Met) single nucleotide variant Uncertain significance rs114190729 GRCh37 Chromosome 7, 103197510: 103197510
25 RELN NM_005045.3(RELN): c.5711C> T (p.Thr1904Met) single nucleotide variant Uncertain significance rs114190729 GRCh38 Chromosome 7, 103557063: 103557063
26 RELN NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln) single nucleotide variant Uncertain significance rs200010849 GRCh37 Chromosome 7, 103183202: 103183202
27 RELN NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln) single nucleotide variant Uncertain significance rs200010849 GRCh38 Chromosome 7, 103542755: 103542755
28 RELN NM_005045.3(RELN): c.4907A> G (p.Asp1636Gly) single nucleotide variant Uncertain significance rs587780439 GRCh37 Chromosome 7, 103206700: 103206700
29 RELN NM_005045.3(RELN): c.4907A> G (p.Asp1636Gly) single nucleotide variant Uncertain significance rs587780439 GRCh38 Chromosome 7, 103566253: 103566253
30 RELN NM_005045.3(RELN): c.5095G> A (p.Glu1699Lys) single nucleotide variant Uncertain significance rs147657490 GRCh37 Chromosome 7, 103205840: 103205840
31 RELN NM_005045.3(RELN): c.5095G> A (p.Glu1699Lys) single nucleotide variant Uncertain significance rs147657490 GRCh38 Chromosome 7, 103565393: 103565393
32 RELN NM_005045.3(RELN): c.6726G> C (p.Arg2242Ser) single nucleotide variant Uncertain significance rs201422815 GRCh37 Chromosome 7, 103180848: 103180848
33 RELN NM_005045.3(RELN): c.6726G> C (p.Arg2242Ser) single nucleotide variant Uncertain significance rs201422815 GRCh38 Chromosome 7, 103540401: 103540401
34 LGI1 NM_005097.3(LGI1): c.345A> G (p.Pro115=) single nucleotide variant Conflicting interpretations of pathogenicity rs151104648 GRCh37 Chromosome 10, 95537193: 95537193
35 LGI1 NM_005097.3(LGI1): c.345A> G (p.Pro115=) single nucleotide variant Conflicting interpretations of pathogenicity rs151104648 GRCh38 Chromosome 10, 93777436: 93777436
36 LGI1 NM_005097.3(LGI1): c.717A> C (p.Ile239=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425212 GRCh37 Chromosome 10, 95552986: 95552986
37 LGI1 NM_005097.3(LGI1): c.717A> C (p.Ile239=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425212 GRCh38 Chromosome 10, 93793229: 93793229
38 LGI1 NM_005097.3(LGI1): c.1155A> C (p.Leu385=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148793 GRCh37 Chromosome 10, 95557041: 95557041
39 LGI1 NM_005097.3(LGI1): c.1155A> C (p.Leu385=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148793 GRCh38 Chromosome 10, 93797284: 93797284
40 RELN NM_005045.3(RELN): c.6925G> A (p.Asp2309Asn) single nucleotide variant Uncertain significance rs138978280 GRCh37 Chromosome 7, 103180649: 103180649
41 RELN NM_005045.3(RELN): c.6925G> A (p.Asp2309Asn) single nucleotide variant Uncertain significance rs138978280 GRCh38 Chromosome 7, 103540202: 103540202
42 RELN NM_005045.3(RELN): c.6193G> A (p.Val2065Ile) single nucleotide variant Uncertain significance rs201627577 GRCh37 Chromosome 7, 103191623: 103191623
43 RELN NM_005045.3(RELN): c.6193G> A (p.Val2065Ile) single nucleotide variant Uncertain significance rs201627577 GRCh38 Chromosome 7, 103551176: 103551176
44 RELN NM_005045.3(RELN): c.1817C> T (p.Thr606Ile) single nucleotide variant Uncertain significance rs540111252 GRCh37 Chromosome 7, 103292183: 103292183
45 RELN NM_005045.3(RELN): c.1817C> T (p.Thr606Ile) single nucleotide variant Uncertain significance rs540111252 GRCh38 Chromosome 7, 103651736: 103651736
46 RELN NM_005045.3(RELN): c.2125A> G (p.Met709Val) single nucleotide variant Uncertain significance rs114577182 GRCh37 Chromosome 7, 103276860: 103276860
47 RELN NM_005045.3(RELN): c.2125A> G (p.Met709Val) single nucleotide variant Uncertain significance rs114577182 GRCh38 Chromosome 7, 103636413: 103636413
48 RELN NM_005045.3(RELN): c.2954C> G (p.Ala985Gly) single nucleotide variant Uncertain significance rs138598422 GRCh37 Chromosome 7, 103251196: 103251196
49 RELN NM_005045.3(RELN): c.2954C> G (p.Ala985Gly) single nucleotide variant Uncertain significance rs138598422 GRCh38 Chromosome 7, 103610749: 103610749
50 RELN NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys) single nucleotide variant Uncertain significance rs146877597 GRCh37 Chromosome 7, 103185574: 103185574

Expression for Epilepsy, Familial Temporal Lobe, 1

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 1.

Pathways for Epilepsy, Familial Temporal Lobe, 1

Pathways related to Epilepsy, Familial Temporal Lobe, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 SMARCA2 SMARCA4 SMARCAD1
2 11.66 BTAF1 SMARCA2 SMARCA4 SMARCAD1
3
Show member pathways
11.25 SMARCA2 SMARCA4 SMARCAD1
4
Show member pathways
11.17 SMARCA2 SMARCA4
5 10.1 ADAM22 LGI1 LGI3 LGI4

GO Terms for Epilepsy, Familial Temporal Lobe, 1

Cellular components related to Epilepsy, Familial Temporal Lobe, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.16 SMARCA2 SMARCA4
2 nBAF complex GO:0071565 8.96 SMARCA2 SMARCA4
3 npBAF complex GO:0071564 8.62 SMARCA2 SMARCA4

Biological processes related to Epilepsy, Familial Temporal Lobe, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 9.33 SMARCA2 SMARCA4 SMARCAD1
2 adult locomotory behavior GO:0008344 9.32 ADAM22 LGI4
3 myelination in peripheral nervous system GO:0022011 9.26 ADAM22 LGI4
4 gliogenesis GO:0042063 8.96 ADAM22 LGI4
5 ATP-dependent chromatin remodeling GO:0043044 8.8 SMARCA2 SMARCA4 SMARCAD1

Molecular functions related to Epilepsy, Familial Temporal Lobe, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.65 BTAF1 RELN SMARCA2 SMARCA4 SMARCAD1
2 DNA-dependent ATPase activity GO:0008094 9.16 SMARCA2 SMARCA4
3 hydrolase activity, acting on acid anhydrides GO:0016817 8.96 SMARCA2 SMARCA4
4 helicase activity GO:0004386 8.92 BTAF1 SMARCA2 SMARCA4 SMARCAD1

Sources for Epilepsy, Familial Temporal Lobe, 1

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