MCID: EPL114
MIFTS: 38

Epilepsy, Familial Temporal Lobe, 1

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 1

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

Name: Epilepsy, Familial Temporal Lobe, 1 57 75 13
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 57 29 6 73
Adpeaf 57 75 55
Etl1 57 12 75
Partial Epilepsy with Auditory Features 12 75
Familial Temporal Lobe Epilepsy 1 12 15
Adlte 57 75
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Adlte 57
Epilepsy, Partial, with Auditory Features; Adpeaf 57
Lateral Temporal Lobe Epilepsy Autosomal Dominant 75
Epilepsy, Partial, with Auditory Features 57
Epilepsy, Temporal Lobe, Familial, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, familial temporal lobe, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 600512
Disease Ontology 12 DOID:0060748
MedGen 42 C1838062
MeSH 44 D004833
UMLS 73 C1838062

Summaries for Epilepsy, Familial Temporal Lobe, 1

OMIM : 57 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 Chromatin Regulation / Acetylation and BRCA1 Pathway. Affiliated tissues include temporal lobe, and related phenotypes are focal seizures with impairment of consciousness or awareness and auditory auras

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 : 75 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

Diseases related to Epilepsy, Familial Temporal Lobe, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant epilepsy with auditory features 32.5 LGI1 RELN
2 autosomal dominant partial epilepsy with auditory features 11.1
3 epilepsy, familial temporal lobe, 2 11.0
4 skeletal dysplasias 10.0
5 temporal lobe epilepsy 10.0 LGI1 RELN
6 limbic encephalitis 9.9 ADAM22 LGI1
7 psychotic disorder 9.2 RELN SMARCA2

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
temporal lobe epilepsy
simple partial seizures
complex partial seizures
secondary generalized tonic clonic seizures
auditory auras
more

Clinical features from OMIM:

600512

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

32
# Description HPO Frequency HPO Source Accession
1 focal seizures with impairment of consciousness or awareness 32 HP:0002384
2 auditory auras 32 HP:0011158
3 generalized tonic-clonic seizures with focal onset 32 HP:0007334
4 focal seizures without impairment of consciousness or awareness 32 HP:0002349

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 ADAM22 BTAF1 LGI1 LGI4 RELN SMARCA2
2 muscle MP:0005369 8.92 BTAF1 LGI4 RELN 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 29 LGI1 RELN

Anatomical Context for Epilepsy, Familial Temporal Lobe, 1

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

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 1

Articles related to Epilepsy, Familial Temporal Lobe, 1:

(show all 13)
# 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 mutations in autosomal dominant partial epilepsy with auditory features. ( 15079011 )
2004
6
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. ( 15349881 )
2004
7
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. ( 15090473 )
2004
8
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. ( 12771268 )
2003
9
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. ( 11879388 )
2002
10
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. ( 11810107 )
2002
11
Autosomal dominant partial epilepsy with auditory features: description of a new family. ( 10961622 )
2000
12
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. ( 10851389 )
2000
13
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:

75 (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 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 LGI1 LGI1, 1-BP DEL, 835C deletion Pathogenic
2 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh37 Chromosome 10, 95557034: 95557034
3 LGI1 NM_005097.3(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 GRCh38 Chromosome 10, 93797277: 93797277
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_005097.3(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 GRCh37 Chromosome 10, 95537349: 95537349
14 LGI1 NM_005097.3(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 LGI1 NM_005097.3(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Benign rs148862146 GRCh37 Chromosome 10, 95552596: 95552596
19 LGI1 NM_005097.3(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Benign rs148862146 GRCh38 Chromosome 10, 93792839: 93792839
20 LGI1 NM_005097.3(LGI1): c.812C> T (p.Thr271Ile) single nucleotide variant Uncertain significance rs140752487 GRCh37 Chromosome 10, 95553081: 95553081
21 LGI1 NM_005097.3(LGI1): c.812C> T (p.Thr271Ile) single nucleotide variant Uncertain significance rs140752487 GRCh38 Chromosome 10, 93793324: 93793324
22 LGI1 NM_005097.3(LGI1): c.1669G> A (p.Ala557Thr) single nucleotide variant Uncertain significance rs370955995 GRCh37 Chromosome 10, 95557555: 95557555
23 LGI1 NM_005097.3(LGI1): c.1669G> A (p.Ala557Thr) single nucleotide variant Uncertain significance rs370955995 GRCh38 Chromosome 10, 93797798: 93797798
24 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh38 Chromosome 10, 93797142: 93797142
25 LGI1 NM_005097.3(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 GRCh37 Chromosome 10, 95556899: 95556899
26 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
27 LGI1 NM_005097.3(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
28 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh37 Chromosome 10, 95518025: 95518025
29 LGI1 NM_005097.3(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 GRCh38 Chromosome 10, 93758268: 93758268
30 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh37 Chromosome 10, 95553027: 95553027
31 LGI1 NM_005097.3(LGI1): c.758delC (p.Ala253Valfs) deletion Pathogenic rs797044997 GRCh38 Chromosome 10, 93793270: 93793270
32 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh38 Chromosome 10, 93797547: 93797547
33 LGI1 NM_005097.3(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 GRCh37 Chromosome 10, 95557304: 95557304
34 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh38 Chromosome 10, 93797549: 93797549
35 LGI1 NM_005097.3(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 GRCh37 Chromosome 10, 95557306: 95557306
36 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh38 Chromosome 10, 93704377: 93785620
37 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic GRCh37 Chromosome 10, 95464133: 95545376
38 LGI1 NM_005097.3(LGI1): c.657C> T (p.Phe219=) single nucleotide variant Likely benign rs1111820 GRCh38 Chromosome 10, 93792896: 93792896
39 LGI1 NM_005097.3(LGI1): c.657C> T (p.Phe219=) single nucleotide variant Likely benign rs1111820 GRCh37 Chromosome 10, 95552653: 95552653
40 LGI1 NM_005097.3(LGI1): c.-168G> A single nucleotide variant Uncertain significance rs879390887 GRCh37 Chromosome 10, 95517734: 95517734
41 LGI1 NM_005097.3(LGI1): c.-168G> A single nucleotide variant Uncertain significance rs879390887 GRCh38 Chromosome 10, 93757977: 93757977
42 LGI1 NM_005097.3(LGI1): c.135G> C (p.Val45=) single nucleotide variant Uncertain significance rs768003944 GRCh37 Chromosome 10, 95518036: 95518036
43 LGI1 NM_005097.3(LGI1): c.135G> C (p.Val45=) single nucleotide variant Uncertain significance rs768003944 GRCh38 Chromosome 10, 93758279: 93758279
44 LGI1 NM_005097.3(LGI1): c.1125G> C (p.Ala375=) single nucleotide variant Uncertain significance rs886047487 GRCh37 Chromosome 10, 95557011: 95557011
45 LGI1 NM_005097.3(LGI1): c.1125G> C (p.Ala375=) single nucleotide variant Uncertain significance rs886047487 GRCh38 Chromosome 10, 93797254: 93797254
46 LGI1 NM_005097.3(LGI1): c.1336A> C (p.Ile446Leu) single nucleotide variant Uncertain significance rs769204967 GRCh37 Chromosome 10, 95557222: 95557222
47 LGI1 NM_005097.3(LGI1): c.1336A> C (p.Ile446Leu) single nucleotide variant Uncertain significance rs769204967 GRCh38 Chromosome 10, 93797465: 93797465
48 LGI1 NM_005097.3(LGI1): c.*215T> C single nucleotide variant Likely benign rs17502662 GRCh37 Chromosome 10, 95557775: 95557775
49 LGI1 NM_005097.3(LGI1): c.*215T> C single nucleotide variant Likely benign rs17502662 GRCh38 Chromosome 10, 93798018: 93798018
50 LGI1 NM_005097.3(LGI1): c.*59T> A single nucleotide variant Uncertain significance rs886047488 GRCh37 Chromosome 10, 95557619: 95557619

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 11.54 BTAF1 SMARCA2 SMARCAD1
2
Show member pathways
11.07 SMARCA2 SMARCAD1
3 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 chromatin remodeling GO:0006338 9.32 SMARCA2 SMARCAD1
2 adult locomotory behavior GO:0008344 9.26 ADAM22 LGI4
3 ATP-dependent chromatin remodeling GO:0043044 9.16 SMARCA2 SMARCAD1
4 myelination in peripheral nervous system GO:0022011 8.96 ADAM22 LGI4
5 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 8.8 BTAF1 SMARCA2 SMARCAD1

Sources for Epilepsy, Familial Temporal Lobe, 1

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
51 NDF-RT
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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