ETL1
MCID: EPL114
MIFTS: 50

Epilepsy, Familial Temporal Lobe, 1 (ETL1)

Categories: Ear diseases, 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 57 73 13
Familial Temporal Lobe Epilepsy 1 12 29 6 15
Adpeaf 57 73 54
Etl1 57 12 73
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 57 71
Partial Epilepsy with Auditory Features 12 73
Adlte 57 73
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Adlte 57
Epilepsy, Partial, with Auditory Features; Adpeaf 57
Lateral Temporal Lobe Epilepsy Autosomal Dominant 73
Epilepsy, Partial, with Auditory Features 57
Epilepsy, Temporal Lobe, Familial, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
epilepsy, familial temporal lobe, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060748
OMIM® 57 600512
OMIM Phenotypic Series 57 PS600512
MeSH 44 D004833
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 1, also known as familial temporal lobe epilepsy 1, 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 Chromatin Regulation / Acetylation. The drugs Olanzapine and Amantadine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe and brain, and related phenotypes are focal impaired awareness seizure and focal aware seizure

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 : 73 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 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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant epilepsy with auditory features 32.8 RELN MICAL1 LGI1 FRA10AC1
2 autosomal dominant partial epilepsy with auditory features 11.1
3 temporal epilepsy, familial 11.1
4 epilepsy, familial temporal lobe, 2 11.0
5 temporal lobe epilepsy 10.4
6 epilepsy, familial temporal lobe, 7 10.4 RELN LGI1
7 schizophrenia 7 10.4 SMARCA2 H2AC18
8 epilepsy, familial temporal lobe, 3 10.3 LGI3 LGI1 LCOR
9 smarca4-deficient sarcoma of thorax 10.3 SMARCA4 SMARCA2
10 teeth hard tissue disease 10.3 LCOR H2AC18 ERCC6
11 congenital nervous system abnormality 10.3 RELN H2AC18 ERCC6
12 unverricht-lundborg syndrome 10.3 LGI2 LGI1 EFHC1
13 physical disorder 10.3 RELN H2AC18 ERCC6
14 floating-harbor syndrome 10.3 SMARCA4 SMARCA2 H2AC18
15 basan syndrome 10.3 SMARCAD1 SMARCA4 SMARCA2
16 juvenile type testicular granulosa cell tumor 10.3 SMARCA4 SMARCA2
17 carbohydrate metabolic disorder 10.3 SMARCA4 H2AC18 ERCC6
18 testicular granulosa cell tumor 10.3 SMARCA4 SMARCA2
19 rhabdoid cancer 10.3 SMARCA4 SMARCA2 H2AC18
20 non-syndromic intellectual disability 10.3 SMARCA4 SMARCA2 H2AC18
21 electroclinical syndrome 10.3 KCNA1 H2AC18 EFHC1
22 chromosome 16p13.3 deletion syndrome, proximal 10.3 SMARCA4 SMARCA2 H2AC18
23 schimke immunoosseous dysplasia 10.3 SMARCA4 SMARCA2 SMARCA1
24 developmental and epileptic encephalopathy 14 10.3 SMARCA4 SMARCA2 KCNA1
25 coffin-siris syndrome 4 10.2 SMARCA4 H2AC18
26 uv-sensitive syndrome 10.2 SMARCA2 SMARCA1 H2AC18 ERCC6
27 adiaspiromycosis 10.2 SMARCA4 SMARCA2
28 immunodeficiency-centromeric instability-facial anomalies syndrome 10.2 SMARCA4 SMARCA2 MICAL1 H2AC18
29 epilepsy, myoclonic juvenile 10.2 LGI4 LGI1 KCNA1 EFHC1
30 movement disease 10.2 LGI1 H2AC18 ERCC6
31 cartilage-hair hypoplasia 10.2 SMARCA4 SMARCA2 SMARCA1 H2AC18
32 autosomal dominant nocturnal frontal lobe epilepsy 10.2 LGI1 KCNA1 EFHC1
33 benign familial infantile epilepsy 10.2 LGI4 LGI3 LGI2 LGI1 EFHC1
34 charge syndrome 10.2 SMARCA4 SMARCA2 SMARCA1 H2AC18
35 early myoclonic encephalopathy 10.2 LGI1 KCNA1 EFHC1
36 deafness, autosomal recessive 98 10.2 LGI2 LGI1
37 early infantile epileptic encephalopathy 10.1 RELN LGI1 KCNA1 EFHC1 ADAM22
38 alpha thalassemia-x-linked intellectual disability syndrome 10.1 SMARCA4 SMARCA2 SMARCA1 H2AC18 ERCC6
39 epilepsy 10.1
40 childhood absence epilepsy 10.1 LGI4 LGI2 LGI1 KCNA1 EFHC1
41 autosomal dominant non-syndromic intellectual disability 10.1 SMARCA4 SMARCA2 SMARCA1 H2AC18
42 alpha-thalassemia 10.1 SMARCA4 SMARCA2 SMARCA1 H2AC18 ERCC6
43 cockayne syndrome 10.1 SMARCA4 SMARCA2 SMARCA1 H2AC18 ERCC6
44 hyperoxaluria, primary, type i 10.1 SMARCA4 SMARCA2 SMARCA1 LCOR H2AC18
45 generalized epilepsy with febrile seizures plus 10.1 LGI1 KCNA1 EFHC1
46 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1 H2AC18 ERCC6
47 epilepsy, idiopathic generalized 10.1
48 aphasia 10.1
49 primary hyperoxaluria 10.0 SMARCA4 SMARCA2 SMARCA1 LCOR H2AC18 ERCC6
50 skeletal dysplasias 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 31 HP:0002384
2 focal aware seizure 31 HP:0002349
3 bilateral tonic-clonic seizure with focal onset 31 HP:0007334
4 focal sensory seizure with auditory features 31 HP:0011158

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.55 ADAM22
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 LGI1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.55 ADAM22
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.55 ADAM22
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.55 ADAM22
6 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.55 SMARCA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.55 SMARCA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.55 LGI1 SMARCA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.55 SMARCA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.55 ADAM22
11 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.55 ADAM22 LGI1 SMARCA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.55 LGI1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.55 ADAM22
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.55 SMARCA1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ADAM11 ADAM22 ADAM23 EFHC1 ERCC6 KCNA1
2 growth/size/body region MP:0005378 9.77 ADAM22 ADAM23 ADAM28 ERCC6 KCNA1 LGI1
3 muscle MP:0005369 9.17 EFHC1 ERCC6 KCNA1 LGI4 RELN SMARCA2

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 1

Drugs for Epilepsy, Familial Temporal Lobe, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olanzapine Approved, Investigational Phase 1 132539-06-1 4585 135398745
2
Amantadine Approved Phase 1 768-94-5 2130
3
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
4 Gastrointestinal Agents Phase 1
5 Neurotransmitter Agents Phase 1
6 Dopamine Agents Phase 1
7 Antiparkinson Agents Phase 1
8 Anti-Infective Agents Phase 1
9 Psychotropic Drugs Phase 1
10 Antipsychotic Agents Phase 1
11 Antiviral Agents Phase 1
12 Analgesics, Non-Narcotic Phase 1
13 Analgesics Phase 1
14 Serotonin Uptake Inhibitors Phase 1
15 Antiemetics Phase 1
16
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double Blind Placebo Controlled Investigation of Amantadine for Retarding Weight Gain in First Episode Adlt Psychotic Subjects Beginning Therapy With Olanzapine. Completed NCT00287352 Phase 1 Olanzapine, Amantadine;Olanzapine and placebo
2 MRI in Autosomal Dominant Partial Epilepsy With Auditory Features Completed NCT00072813

Search 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 Familial Temporal Lobe Epilepsy 1 29 LGI1 MICAL1 RELN

Anatomical Context for Epilepsy, Familial Temporal Lobe, 1

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

40
Temporal Lobe, Brain

Publications for Epilepsy, Familial Temporal Lobe, 1

Articles related to Epilepsy, Familial Temporal Lobe, 1:

(show all 45)
# Title Authors PMID Year
1
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. 57 6 54
12205652 2002
2
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. 6 57
22496201 2012
3
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 6 57
17562837 2007
4
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 57 6
11810107 2002
5
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 57 54
18711109 2008
6
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 6 54
15857855 2005
7
LGI1 mutations in temporal lobe epilepsies. 54 57
15079010 2004
8
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 54 57
15079011 2004
9
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 54 6
12771268 2003
10
Altered language processing in autosomal dominant partial epilepsy with auditory features. 57
19064878 2008
11
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. 6
18625862 2008
12
Two novel epilepsy-linked mutations leading to a loss of function of LGI1. 6
17296837 2007
13
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 6
15349881 2004
14
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. 6
12601709 2003
15
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. 6
11978770 2002
16
Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. 57
11906506 2002
17
Supporting evidence of a gene for partial epilepsy on 10q. 57
11085594 2000
18
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. 57
10851389 2000
19
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. 57
9989620 1999
20
Familial temporal lobe epilepsy: a common disorder identified in twins. 57
8773604 1996
21
Localization of a gene for partial epilepsy to chromosome 10q. 57
7647791 1995
22
SMARCAD1 is an ATP-dependent stimulator of nucleosomal H2A acetylation via CBP, resulting in transcriptional regulation. 61
26888216 2016
23
Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. 54
19780791 2010
24
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 54
20133599 2010
25
The SNF2-family member Fun30 promotes gene silencing in heterochromatic loci. 61
19956593 2009
26
Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings. 54
19552651 2009
27
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. 54
19701204 2009
28
Lateral temporal lobe epilepsies: clinical and genetic features. 54
19469848 2009
29
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 54
19191227 2009
30
[Clinical features in a Japanese patient with autosomal dominant lateral temporal epilepsy having LGI1 mutation]. 54
19462817 2009
31
[Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy]. 54
19537038 2009
32
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. 54
18440780 2008
33
Expression profile of Lgi1 gene in mouse brain during development. 54
18563303 2008
34
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. 54
18355961 2008
35
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. 54
17681454 2007
36
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 54
16990550 2006
37
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 54
16518856 2006
38
The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. 54
16504945 2006
39
LGI1: a gene involved in epileptogenesis and glioma progression? 54
15827762 2005
40
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. 54
15660777 2005
41
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. 54
15009222 2004
42
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. 54
14510822 2003
43
Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patients. 54
14598228 2003
44
Skeletal dysplasias, growth retardation, reduced postnatal survival, and impaired fertility in mice lacking the SNF2/SWI2 family member ETL1. 61
10415348 1999
45
Isolation and partial characterization of N-acetyl-D-galactosamine-binding lectins from Epiphragmophora trenquelleonis snail. 61
8882733 1996

Variations for Epilepsy, Familial Temporal Lobe, 1

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

6 (show top 50) (show all 158)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LGI1 LGI1, 81-KB DEL Deletion Pathogenic 40218
2 LGI1 NC_000010.11:g.(93704377_?)_(?_93785620)del Deletion Pathogenic 208479 10:95464133-95545376 10:93704377-93785620
3 LGI1 NM_005097.4(LGI1):c.758del (p.Ala253fs) Deletion Pathogenic 208477 rs797044997 10:95553027-95553027 10:93793270-93793270
4 LGI1 NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) SNV Pathogenic 208125 rs869025201 10:95556899-95556899 10:93797142-93797142
5 LGI1 NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) SNV Pathogenic 408590 rs1060502053 10:95557014-95557014 10:93797257-93797257
6 LGI1 NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) SNV Pathogenic 408592 rs1060502054 10:95552957-95552957 10:93793200-93793200
7 LGI1 NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) SNV Pathogenic 5439 rs119488100 10:95537308-95537308 10:93777551-93777551
8 LGI1 NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) SNV Pathogenic 5438 rs119488099 10:95537349-95537349 10:93777592-93777592
9 LGI1 NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) SNV Pathogenic 5437 rs104894167 10:95552964-95552964 10:93793207-93793207
10 LGI1 LGI1, IVS5DS, G-A, +1 SNV Pathogenic 5436
11 LGI1 NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) SNV Pathogenic 5435 rs28939075 10:95556839-95556839 10:93797082-93797082
12 LGI1 LGI1, 1320C-T SNV Pathogenic 5434
13 LGI1 NM_005097.4(LGI1):c.360-3C>A SNV Pathogenic 5432 rs1589762127 10:95537300-95537300 10:93777543-93777543
14 LGI1 LGI1, 1-BP DEL, 835C Deletion Pathogenic 5431
15 LGI1 NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) SNV Pathogenic 5430 rs28937874 10:95557034-95557034 10:93797277-93797277
16 LGI1 NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) Deletion Pathogenic 464746 rs1554907835 10:95557323-95557326 10:93797566-93797569
17 LGI1 NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) SNV Pathogenic 464744 rs1554907787 10:95557142-95557142 10:93797385-93797385
18 LGI1 NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) Duplication Pathogenic 533337 rs1554907767 10:95557042-95557043 10:93797285-93797286
19 LGI1 NM_005097.4(LGI1):c.1580_1581del (p.His527fs) Deletion Pathogenic 641538 rs1364913665 10:95557466-95557467 10:93797709-93797710
20 FRA10AC1 NC_000010.11:g.(?_93161309)_(93797823_?)del Deletion Pathogenic 833253 10:94921066-95557580
21 LGI1 NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) SNV Pathogenic 5433 rs104894166 10:95518037-95518037 10:93758280-93758280
22 LGI1 NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) SNV Pathogenic 208480 rs797044999 10:95557304-95557304 10:93797547-93797547
23 LGI1 NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) SNV Pathogenic 208476 rs797044996 10:95518025-95518025 10:93758268-93758268
24 LGI1 NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) SNV Pathogenic 208478 rs797044998 10:95557306-95557306 10:93797549-93797549
25 LGI1 NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) SNV Pathogenic 208475 rs797044996 10:95518025-95518025 10:93758268-93758268
26 LGI1 NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) SNV Pathogenic 583153 rs1564845068 10:95537329-95537329 10:93777572-93777572
27 LGI1 NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) SNV Likely pathogenic 982819 10:95517905-95517905 10:93758148-93758148
28 LGI1 NM_005097.4(LGI1):c.504-1G>T SNV Likely pathogenic 571017 rs1564851314 10:95552499-95552499 10:93792742-93792742
29 LGI1 NM_005097.4(LGI1):c.345A>G (p.Pro115=) SNV Conflicting interpretations of pathogenicity 138112 rs151104648 10:95537193-95537193 10:93777436-93777436
30 LGI1 NM_005097.4(LGI1):c.1392G>A (p.Ser464=) SNV Conflicting interpretations of pathogenicity 301660 rs148804268 10:95557278-95557278 10:93797521-93797521
31 LGI1 NM_005097.4(LGI1):c.1155A>C (p.Leu385=) SNV Conflicting interpretations of pathogenicity 138115 rs202148793 10:95557041-95557041 10:93797284-93797284
32 LGI1 NM_005097.4(LGI1):c.717A>C (p.Ile239=) SNV Conflicting interpretations of pathogenicity 138113 rs146425212 10:95552986-95552986 10:93793229-93793229
33 LGI1 NM_005097.4(LGI1):c.1A>G (p.Met1Val) SNV Conflicting interpretations of pathogenicity 415035 rs202204627 10:95517902-95517902 10:93758145-93758145
34 RELN NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) SNV Uncertain significance 95223 rs114190729 7:103197510-103197510 7:103557063-103557063
35 RELN NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) SNV Uncertain significance 167580 rs201627577 7:103191623-103191623 7:103551176-103551176
36 RELN NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) SNV Uncertain significance 95226 rs200010849 7:103183202-103183202 7:103542755-103542755
37 RELN NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) SNV Uncertain significance 167579 rs138978280 7:103180649-103180649 7:103540202-103540202
38 LGI1 NM_005097.4(LGI1):c.1290G>A (p.Glu430=) SNV Uncertain significance 639356 rs139879036 10:95557176-95557176 10:93797419-93797419
39 LGI1 NM_005097.4(LGI1):c.1318G>A (p.Val440Met) SNV Uncertain significance 569365 rs144400448 10:95557204-95557204 10:93797447-93797447
40 GRIN2A NM_001134407.3(GRIN2A):c.479A>G (p.Lys160Arg) SNV Uncertain significance 813810 16:10032344-10032344 16:9938487-9938487
41 RELN NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) SNV Uncertain significance 95220 rs115577014 7:103214713-103214713 7:103574266-103574266
42 RELN NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) SNV Uncertain significance 95216 rs144653976 7:103275891-103275891 7:103635444-103635444
43 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys) SNV Uncertain significance 95211 rs139648092 7:103629665-103629665 7:103989218-103989218
44 RELN NM_005045.4(RELN):c.8843+3A>C SNV Uncertain significance 197969 rs200124755 7:103138521-103138521 7:103498074-103498074
45 LGI1 NM_005097.4(LGI1):c.1465del (p.Tyr489fs) Deletion Uncertain significance 648214 rs1589776148 10:95557351-95557351 10:93797594-93797594
46 LGI1 NM_005097.4(LGI1):c.568C>T (p.His190Tyr) SNV Uncertain significance 877601 10:95552564-95552564 10:93792807-93792807
47 LGI1 NM_005097.4(LGI1):c.*180G>A SNV Uncertain significance 879215 10:95557740-95557740 10:93797983-93797983
48 LGI1 NM_005097.4(LGI1):c.*282A>G SNV Uncertain significance 879216 10:95557842-95557842 10:93798085-93798085
49 LGI1 NM_005097.4(LGI1):c.275C>T (p.Ser92Leu) SNV Uncertain significance 931902 10:95518576-95518576 10:93758819-93758819
50 LGI1 NM_005097.4(LGI1):c.55A>G (p.Ile19Val) SNV Uncertain significance 935676 10:95517956-95517956 10:93758199-93758199

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

73 (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

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
13.07 LGI4 LGI3 LGI2 LGI1 H2AC18 ADAM23
2 12.03 SMARCAD1 SMARCA4 SMARCA2 SMARCA1
3
Show member pathways
11.69 SMARCAD1 SMARCA4 SMARCA2 SMARCA1
4
Show member pathways
11.18 SMARCAD1 SMARCA4 SMARCA2 SMARCA1
5 10.34 LGI4 LGI3 LGI2 LGI1 ADAM23 ADAM22

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 glutamatergic synapse GO:0098978 9.56 LGI1 KCNA1 ADAM23 ADAM22
2 SWI/SNF complex GO:0016514 9.16 SMARCA4 SMARCA2
3 nBAF complex GO:0071565 8.96 SMARCA4 SMARCA2
4 npBAF complex GO:0071564 8.62 SMARCA4 SMARCA2

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.77 RELN ADAM28 ADAM23 ADAM22 ADAM11
2 myelination in peripheral nervous system GO:0022011 9.32 LGI4 ADAM22
3 gliogenesis GO:0042063 9.26 LGI4 ADAM22
4 chromatin remodeling GO:0006338 9.26 SMARCAD1 SMARCA4 SMARCA2 SMARCA1
5 neurotransmitter receptor localization to postsynaptic specialization membrane GO:0099645 9.16 LGI1 ADAM22
6 ATP-dependent chromatin remodeling GO:0043044 9.02 SMARCAD1 SMARCA4 SMARCA2 SMARCA1 ERCC6

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.56 ADAM28 ADAM23 ADAM22 ADAM11
2 metalloendopeptidase activity GO:0004222 9.46 ADAM28 ADAM23 ADAM22 ADAM11
3 helicase activity GO:0004386 9.35 SMARCAD1 SMARCA4 SMARCA2 SMARCA1 ERCC6
4 hydrolase activity, acting on acid anhydrides GO:0016817 9.32 SMARCA4 SMARCA2
5 DNA-dependent ATPase activity GO:0008094 9.02 SMARCAD1 SMARCA4 SMARCA2 SMARCA1 ERCC6

Sources for Epilepsy, Familial Temporal Lobe, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....