ETL1
MCID: EPL114
MIFTS: 37

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 Developmental Biology and LGI-ADAM interactions. 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 shRNA abundance (Z-score < -2) GR00366-A-148 8.92 LGI1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 8.92 LGI1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 8.92 ADAM22 LGI1

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 9.02 ADAM22 BTAF1 LGI1 LGI4 SMARCA2

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

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 14)
# Title Authors Year
1
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). ( 24721199 )
2014
2
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. ( 24579982 )
2014
3
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 18711109 )
2008
4
Altered language processing in autosomal dominant partial epilepsy with auditory features. ( 19064878 )
2008
5
LGI1 gene mutation screening in sporadic partial epilepsy with auditory features. ( 15654555 )
2005
6
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ( 15079011 )
2004
7
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. ( 15349881 )
2004
8
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. ( 15090473 )
2004
9
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. ( 12771268 )
2003
10
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. ( 11879388 )
2002
11
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. ( 11810107 )
2002
12
Autosomal dominant partial epilepsy with auditory features: description of a new family. ( 10961622 )
2000
13
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. ( 10851389 )
2000
14
Autosomal Dominant Partial Epilepsy with Auditory Features ( 20301709 )
1993

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 151)
# Gene Variation Type Significance SNP ID Assembly Location
1 LGI1 NM_005097.3(LGI1): c.191C> T (p.Thr64Ile) single nucleotide variant Uncertain significance rs373616721 GRCh37 Chromosome 10, 95518092: 95518092
2 LGI1 NM_005097.3(LGI1): c.191C> T (p.Thr64Ile) single nucleotide variant Uncertain significance rs373616721 GRCh38 Chromosome 10, 93758335: 93758335
3 LGI1 NM_005097.3(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Conflicting interpretations of pathogenicity rs148862146 GRCh37 Chromosome 10, 95552596: 95552596
4 LGI1 NM_005097.3(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Conflicting interpretations of pathogenicity rs148862146 GRCh38 Chromosome 10, 93792839: 93792839
5 LGI1 NM_005097.3(LGI1): c.812C> T (p.Thr271Ile) single nucleotide variant Uncertain significance rs140752487 GRCh37 Chromosome 10, 95553081: 95553081
6 LGI1 NM_005097.3(LGI1): c.812C> T (p.Thr271Ile) single nucleotide variant Uncertain significance rs140752487 GRCh38 Chromosome 10, 93793324: 93793324
7 LGI1 NM_005097.3(LGI1): c.1669G> A (p.Ala557Thr) single nucleotide variant Uncertain significance rs370955995 GRCh37 Chromosome 10, 95557555: 95557555
8 LGI1 NM_005097.3(LGI1): c.1669G> A (p.Ala557Thr) single nucleotide variant Uncertain significance rs370955995 GRCh38 Chromosome 10, 93797798: 93797798
9 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh38 Chromosome 10, 93797142: 93797142
10 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh37 Chromosome 10, 95556899: 95556899
11 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
12 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
13 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
14 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
15 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh37 Chromosome 10, 95553027: 95553027
16 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh38 Chromosome 10, 93793270: 93793270
17 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh38 Chromosome 10, 93797547: 93797547
18 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh37 Chromosome 10, 95557304: 95557304
19 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh38 Chromosome 10, 93797549: 93797549
20 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh37 Chromosome 10, 95557306: 95557306
21 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh38 Chromosome 10, 93704377: 93785620
22 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh37 Chromosome 10, 95464133: 95545376
23 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh37 Chromosome 10, 95557034: 95557034
24 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh38 Chromosome 10, 93797277: 93797277
25 LGI1 LGI1, 1-BP DEL, 835C deletion Pathogenic
26 LGI1 LGI1, IVS3AS, C-A, -3 single nucleotide variant Pathogenic
27 LGI1 NM_005097.3(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 GRCh37 Chromosome 10, 95518037: 95518037
28 LGI1 NM_005097.3(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 GRCh38 Chromosome 10, 93758280: 93758280
29 LGI1 LGI1, 1320C-T single nucleotide variant Pathogenic
30 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh37 Chromosome 10, 95556839: 95556839
31 LGI1 NM_005097.3(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 GRCh38 Chromosome 10, 93797082: 93797082
32 LGI1 LGI1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
33 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh37 Chromosome 10, 95552964: 95552964
34 LGI1 NM_005097.3(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 GRCh38 Chromosome 10, 93793207: 93793207
35 LGI1 NM_005097.3(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh37 Chromosome 10, 95537349: 95537349
36 LGI1 NM_005097.3(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh38 Chromosome 10, 93777592: 93777592
37 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh37 Chromosome 10, 95537308: 95537308
38 LGI1 NM_005097.3(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 GRCh38 Chromosome 10, 93777551: 93777551
39 LGI1 LGI1, 81-KB DEL deletion Pathogenic
40 RELN NM_005045.3(RELN): c.6726G> C (p.Arg2242Ser) single nucleotide variant Uncertain significance rs201422815 GRCh37 Chromosome 7, 103180848: 103180848
41 RELN NM_005045.3(RELN): c.6726G> C (p.Arg2242Ser) single nucleotide variant Uncertain significance rs201422815 GRCh38 Chromosome 7, 103540401: 103540401
42 LGI1 NM_005097.3(LGI1): c.345A> G (p.Pro115=) single nucleotide variant Conflicting interpretations of pathogenicity rs151104648 GRCh37 Chromosome 10, 95537193: 95537193
43 LGI1 NM_005097.3(LGI1): c.345A> G (p.Pro115=) single nucleotide variant Conflicting interpretations of pathogenicity rs151104648 GRCh38 Chromosome 10, 93777436: 93777436
44 LGI1 NM_005097.3(LGI1): c.717A> C (p.Ile239=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425212 GRCh37 Chromosome 10, 95552986: 95552986
45 LGI1 NM_005097.3(LGI1): c.717A> C (p.Ile239=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425212 GRCh38 Chromosome 10, 93793229: 93793229
46 LGI1 NM_005097.3(LGI1): c.1155A> C (p.Leu385=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148793 GRCh37 Chromosome 10, 95557041: 95557041
47 LGI1 NM_005097.3(LGI1): c.1155A> C (p.Leu385=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148793 GRCh38 Chromosome 10, 93797284: 93797284
48 LGI1 NM_005097.3(LGI1): c.657C> T (p.Phe219=) single nucleotide variant Likely benign rs1111820 GRCh38 Chromosome 10, 93792896: 93792896
49 LGI1 NM_005097.3(LGI1): c.657C> T (p.Phe219=) single nucleotide variant Likely benign rs1111820 GRCh37 Chromosome 10, 95552653: 95552653
50 LGI1 NM_005097.3(LGI1): c.-168G> A single nucleotide variant Uncertain significance rs879390887 GRCh38 Chromosome 10, 93757977: 93757977

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
12.47 ADAM22 LGI1 LGI3 LGI4
2 10.1 ADAM22 LGI1 LGI3 LGI4

GO Terms for Epilepsy, Familial Temporal Lobe, 1

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

# Name GO ID Score Top Affiliating Genes
1 adult locomotory behavior GO:0008344 9.16 ADAM22 LGI4
2 myelination in peripheral nervous system GO:0022011 8.96 ADAM22 LGI4
3 gliogenesis GO:0042063 8.62 ADAM22 LGI4

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

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 8.62 BTAF1 SMARCA2

Sources for Epilepsy, Familial Temporal Lobe, 1

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