ETL1
MCID: EPL114
MIFTS: 46

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 56 73 13
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 56 29 71
Familial Temporal Lobe Epilepsy 1 12 6 15
Adpeaf 56 73 54
Etl1 56 12 73
Partial Epilepsy with Auditory Features 12 73
Adlte 56 73
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Adlte 56
Epilepsy, Partial, with Auditory Features; Adpeaf 56
Lateral Temporal Lobe Epilepsy Autosomal Dominant 73
Epilepsy, Partial, with Auditory Features 56
Epilepsy, Temporal Lobe, Familial, Type 1 39

Characteristics:

OMIM:

56
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 56 600512
OMIM Phenotypic Series 56 PS600512
MeSH 43 D004833
UMLS 71 C1838062

Summaries for Epilepsy, Familial Temporal Lobe, 1

OMIM : 56 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 focal epilepsy. 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. Affiliated tissues include temporal lobe and brain, 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 : 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 all 48)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant epilepsy with auditory features 33.5 RELN MICAL1 LGI1
2 focal epilepsy 30.2 RELN LGI2 LGI1 KCNA1 ADAM23 ADAM22
3 autosomal dominant partial epilepsy with auditory features 11.7
4 temporal epilepsy, familial 11.4
5 epilepsy, familial temporal lobe, 2 11.3
6 von economo's disease 10.5 LGI1 ADAM22
7 la crosse encephalitis 10.5 LGI1 ADAM23
8 deafness, autosomal recessive 98 10.4 LGI2 LGI1 EPRS1
9 congenital nervous system abnormality 10.4 RELN ERCC6 EPRS1
10 enamel erosion 10.3 SMARCA4 SMARCA2
11 limbic encephalitis 10.3 LGI1 ADAM22
12 physical disorder 10.3 RELN ERCC6 EPRS1
13 temporal lobe epilepsy 10.3
14 epilepsy 10.3
15 glioma 10.3
16 glial tumor 10.3
17 uv-sensitive syndrome 10.3 SMARCA2 SMARCA1 ERCC6
18 epilepsy, familial temporal lobe, 3 10.3 LGI3 LGI2 LGI1 LCOR
19 tooth erosion 10.3 SMARCA4 SMARCA2
20 autosomal dominant nocturnal frontal lobe epilepsy 10.3 LGI1 KCNA1 EFHC1
21 immunodeficiency-centromeric instability-facial anomalies syndrome 10.3 SMARCA4 SMARCA2 MICAL1
22 root caries 10.2 SMARCA4 SMARCA2
23 respiratory failure 10.2
24 skeletal dysplasias 10.2
25 epileptic encephalopathy, early infantile, 6 10.2 LGI1 KCNA1 EFHC1
26 schimke immunoosseous dysplasia 10.2 SMARCA4 SMARCA2 SMARCA1
27 generalized epilepsy with febrile seizures plus 10.2 LGI1 KCNA1 EFHC1
28 glioma susceptibility 1 10.2
29 glioblastoma multiforme 10.2
30 neonatal period electroclinical syndrome 10.2 LGI1 KCNA1 EPRS1 EFHC1
31 electroclinical syndrome 10.2 LGI1 KCNA1 EPRS1 EFHC1
32 epilepsy, myoclonic juvenile 10.2 LGI4 LGI1 KCNA1 EFHC1
33 childhood absence epilepsy 10.2 LGI4 LGI1 KCNA1 EFHC1
34 benign familial infantile epilepsy 10.1 LGI4 LGI3 LGI2 LGI1 EFHC1
35 visual epilepsy 10.1
36 status epilepticus 10.1
37 depdc5-related epilepsy 10.1
38 seizure disorder 10.1
39 rapidly involuting congenital hemangioma 10.1
40 epilepsy with generalized tonic-clonic seizures 10.1 LGI2 EFHC1
41 alpha-thalassemia 10.1 SMARCA4 SMARCA2 ERCC6
42 early infantile epileptic encephalopathy 10.0 LGI1 KCNA1 EPRS1 EFHC1 ADAM22
43 cockayne syndrome 10.0 SMARCA2 SMARCA1 ERCC6
44 charge syndrome 10.0 SMARCA5 SMARCA4 SMARCA2 SMARCA1
45 epilepsy, idiopathic generalized 10.0
46 aphasia 10.0
47 alpha thalassemia-x-linked intellectual disability syndrome 9.9 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6
48 benign epilepsy with centrotemporal spikes 9.9 RELN LGI1 EFHC1

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 generalized tonic-clonic seizures with focal onset 31 HP:0007334
3 focal aware seizure 31 HP:0002349
4 focal sensory auditory seizure 31 HP:0011158

Symptoms via clinical synopsis from OMIM:

56
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.47 ADAM22
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.47 SMARCA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.47 LGI1 SMARCA1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.47 SMARCA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.47 LGI1 SMARCA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.47 SMARCA1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.47 SMARCA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.47 ADAM22 LGI1 SMARCA1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.47 SMARCA1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.47 SMARCA1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ADAM11 ADAM22 ADAM23 EFHC1 ERCC6 KCNA1
2 growth/size/body region MP:0005378 9.93 ADAM22 ADAM23 EPRS1 ERCC6 KCNA1 LGI1
3 integument MP:0010771 9.56 EPRS1 ERCC6 KCNA1 LGI1 RELN SMARCA2
4 muscle MP:0005369 9.17 EFHC1 ERCC6 KCNA1 LGI4 RELN SMARCA2

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 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 46)
# Title Authors PMID Year
1
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. 54 56 6
12205652 2002
2
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. 56 6
22496201 2012
3
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 56 6
17562837 2007
4
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 56 6
11810107 2002
5
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 54 56
18711109 2008
6
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 54 6
15857855 2005
7
LGI1 mutations in temporal lobe epilepsies. 54 56
15079010 2004
8
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 54 56
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. 56
19064878 2008
11
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. 6
18625862 2008
12
Autosomal Dominant Epilepsy with Auditory Features 6
20301709 2007
13
Two novel epilepsy-linked mutations leading to a loss of function of LGI1. 6
17296837 2007
14
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 6
15349881 2004
15
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. 6
12601709 2003
16
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. 6
11978770 2002
17
Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. 56
11906506 2002
18
Supporting evidence of a gene for partial epilepsy on 10q. 56
11085594 2000
19
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. 56
10851389 2000
20
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. 56
9989620 1999
21
Familial temporal lobe epilepsy: a common disorder identified in twins. 56
8773604 1996
22
Localization of a gene for partial epilepsy to chromosome 10q. 56
7647791 1995
23
SMARCAD1 is an ATP-dependent stimulator of nucleosomal H2A acetylation via CBP, resulting in transcriptional regulation. 61
26888216 2016
24
Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. 54
19780791 2010
25
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 54
20133599 2010
26
The SNF2-family member Fun30 promotes gene silencing in heterochromatic loci. 61
19956593 2009
27
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
28
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. 54
19701204 2009
29
Lateral temporal lobe epilepsies: clinical and genetic features. 54
19469848 2009
30
[Clinical features in a Japanese patient with autosomal dominant lateral temporal epilepsy having LGI1 mutation]. 54
19462817 2009
31
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 54
19191227 2009
32
[Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy]. 54
19537038 2009
33
Expression profile of Lgi1 gene in mouse brain during development. 54
18563303 2008
34
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. 54
18440780 2008
35
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. 54
18355961 2008
36
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. 54
17681454 2007
37
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 54
16990550 2006
38
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 54
16518856 2006
39
The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. 54
16504945 2006
40
LGI1: a gene involved in epileptogenesis and glioma progression? 54
15827762 2005
41
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. 54
15660777 2005
42
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. 54
15009222 2004
43
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. 54
14510822 2003
44
Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patients. 54
14598228 2003
45
Skeletal dysplasias, growth retardation, reduced postnatal survival, and impaired fertility in mice lacking the SNF2/SWI2 family member ETL1. 61
10415348 1999
46
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 109) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LGI1 NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala)SNV Pathogenic 5430 rs28937874 10:95557034-95557034 10:93797277-93797277
2 LGI1 LGI1, 1-BP DEL, 835Cdeletion Pathogenic 5431
3 LGI1 NM_005097.4(LGI1):c.360-3C>ASNV Pathogenic 5432 10:95537300-95537300 10:93777543-93777543
4 LGI1 NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)SNV Pathogenic 5433 rs104894166 10:95518037-95518037 10:93758280-93758280
5 LGI1 LGI1, 1320C-TSNV Pathogenic 5434
6 LGI1 NM_005097.4(LGI1):c.953T>G (p.Phe318Cys)SNV Pathogenic 5435 rs28939075 10:95556839-95556839 10:93797082-93797082
7 LGI1 LGI1, IVS5DS, G-A, +1SNV Pathogenic 5436
8 LGI1 NM_005097.4(LGI1):c.695T>C (p.Leu232Pro)SNV Pathogenic 5437 rs104894167 10:95552964-95552964 10:93793207-93793207
9 LGI1 NM_005097.4(LGI1):c.406C>T (p.Arg136Trp)SNV Pathogenic 5438 rs119488099 10:95537349-95537349 10:93777592-93777592
10 LGI1 NM_005097.4(LGI1):c.365T>A (p.Ile122Lys)SNV Pathogenic 5439 rs119488100 10:95537308-95537308 10:93777551-93777551
11 LGI1 LGI1, 81-KB DELdeletion Pathogenic 40218
12 LGI1 NM_005097.4(LGI1):c.124T>C (p.Cys42Arg)SNV Pathogenic 208475 rs797044996 10:95518025-95518025 10:93758268-93758268
13 LGI1 NM_005097.4(LGI1):c.124T>G (p.Cys42Gly)SNV Pathogenic 208476 rs797044996 10:95518025-95518025 10:93758268-93758268
14 LGI1 NM_005097.4(LGI1):c.758del (p.Ala253fs)deletion Pathogenic 208477 rs797044997 10:95553027-95553027 10:93793270-93793270
15 LGI1 NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)SNV Pathogenic 208480 rs797044999 10:95557304-95557304 10:93797547-93797547
16 LGI1 NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter)SNV Pathogenic 208478 rs797044998 10:95557306-95557306 10:93797549-93797549
17 LGI1 NC_000010.11:g.(93704377_?)_(?_93785620)deldeletion Pathogenic 208479 10:95464133-95545376 10:93704377-93785620
18 LGI1 NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser)SNV Pathogenic 208125 rs869025201 10:95556899-95556899 10:93797142-93797142
19 LGI1 NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter)SNV Pathogenic 408590 rs1060502053 10:95557014-95557014 10:93797257-93797257
20 LGI1 NM_005097.4(LGI1):c.688C>T (p.Gln230Ter)SNV Pathogenic 408592 rs1060502054 10:95552957-95552957 10:93793200-93793200
21 LGI1 NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter)SNV Pathogenic 464744 rs1554907787 10:95557142-95557142 10:93797385-93797385
22 LGI1 NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer)duplication Pathogenic 533337 rs1554907767 10:95557042-95557043 10:93797285-93797286
23 LGI1 NM_005097.4(LGI1):c.386C>G (p.Ser129Ter)SNV Pathogenic 583153 rs1564845068 10:95537329-95537329 10:93777572-93777572
24 LGI1 NM_005097.4(LGI1):c.1580_1581del (p.His527fs)deletion Pathogenic 641538 10:95557466-95557467 10:93797709-93797710
25 LGI1 NM_005097.4(LGI1):c.504-1G>TSNV Likely pathogenic 571017 rs1564851314 10:95552499-95552499 10:93792742-93792742
26 RELN NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)SNV Conflicting interpretations of pathogenicity 212029 rs143050366 7:103338335-103338335 7:103697888-103697888
27 LGI1 NM_005097.4(LGI1):c.1392G>A (p.Ser464=)SNV Conflicting interpretations of pathogenicity 301660 rs148804268 10:95557278-95557278 10:93797521-93797521
28 RELN NM_005045.4(RELN):c.1001G>A (p.Arg334His)SNV Conflicting interpretations of pathogenicity 287147 rs146922726 7:103338442-103338442 7:103697995-103697995
29 RELN NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)SNV Conflicting interpretations of pathogenicity 358386 rs375985673 7:103155746-103155746 7:103515299-103515299
30 LGI1 NM_005097.4(LGI1):c.345A>G (p.Pro115=)SNV Conflicting interpretations of pathogenicity 138112 rs151104648 10:95537193-95537193 10:93777436-93777436
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 RELN NM_005045.4(RELN):c.8843+3A>CSNV Conflicting interpretations of pathogenicity 197969 rs200124755 7:103138521-103138521 7:103498074-103498074
33 RELN NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)SNV Uncertain significance 198354 rs377638585 7:103113332-103113332 7:103472885-103472885
34 RELN NM_005045.4(RELN):c.697G>A (p.Ala233Thr)SNV Uncertain significance 198526 rs181961566 7:103368614-103368614 7:103728167-103728167
35 LGI1 NM_005097.4(LGI1):c.191C>T (p.Thr64Ile)SNV Uncertain significance 206023 rs373616721 10:95518092-95518092 10:93758335-93758335
36 LGI1 NM_005097.4(LGI1):c.269C>T (p.Thr90Met)SNV Uncertain significance 206024 rs796052692 10:95518570-95518570 10:93758813-93758813
37 LGI1 NM_005097.4(LGI1):c.272C>T (p.Pro91Leu)SNV Uncertain significance 206025 rs796052693 10:95518573-95518573 10:93758816-93758816
38 LGI1 NM_005097.4(LGI1):c.1669G>A (p.Ala557Thr)SNV Uncertain significance 206032 rs370955995 10:95557555-95557555 10:93797798-93797798
39 RELN NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn)SNV Uncertain significance 167579 rs138978280 7:103180649-103180649 7:103540202-103540202
40 RELN NM_005045.4(RELN):c.6193G>A (p.Val2065Ile)SNV Uncertain significance 167580 rs201627577 7:103191623-103191623 7:103551176-103551176
41 RELN NM_005045.4(RELN):c.1817C>T (p.Thr606Ile)SNV Uncertain significance 194518 rs540111252 7:103292183-103292183 7:103651736-103651736
42 RELN NM_005045.4(RELN):c.2125A>G (p.Met709Val)SNV Uncertain significance 194853 rs114577182 7:103276860-103276860 7:103636413-103636413
43 RELN NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)SNV Uncertain significance 195682 rs138598422 7:103251196-103251196 7:103610749-103610749
44 RELN NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)SNV Uncertain significance 197466 rs146877597 7:103185574-103185574 7:103545127-103545127
45 RELN NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)SNV Uncertain significance 235530 rs144978163 7:103322621-103322621 7:103682174-103682174
46 RELN NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)SNV Uncertain significance 281632 rs149837553 7:103194254-103194254 7:103553807-103553807
47 RELN NM_005045.4(RELN):c.1483A>G (p.Ile495Val)SNV Uncertain significance 212032 rs150850005 7:103294611-103294611 7:103654164-103654164
48 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys)SNV Uncertain significance 95211 rs139648092 7:103629665-103629665 7:103989218-103989218
49 RELN NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)SNV Uncertain significance 95216 rs144653976 7:103275891-103275891 7:103635444-103635444
50 RELN NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)SNV Uncertain significance 95220 rs115577014 7:103214713-103214713 7:103574266-103574266

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
13.08 LGI4 LGI3 LGI2 LGI1 ADAM23 ADAM22
2 12.06 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1
3
Show member pathways
11.79 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1
4
Show member pathways
11.27 SMARCAD1 SMARCA5 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 9.67 LGI1 KCNA1 ADAM23 ADAM22
2 SWI/SNF complex GO:0016514 9.32 SMARCA4 SMARCA2
3 nBAF complex GO:0071565 9.26 SMARCA4 SMARCA2
4 npBAF complex GO:0071564 9.16 SMARCA4 SMARCA2
5 nuclear replication fork GO:0043596 8.96 SMARCAD1 SMARCA5
6 NURF complex GO:0016589 8.62 SMARCA5 SMARCA1

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 9.83 RELN ADAM28 ADAM23 ADAM22 ADAM11
2 positive regulation of transcription, DNA-templated GO:0045893 9.8 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1
3 chromatin organization GO:0006325 9.76 SMARCAD1 SMARCA5 SMARCA4 SMARCA1
4 central nervous system development GO:0007417 9.65 RELN ADAM23 ADAM22
5 myelination in peripheral nervous system GO:0022011 9.37 LGI4 ADAM22
6 chromatin remodeling GO:0006338 9.35 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1
7 nucleosome positioning GO:0016584 9.32 SMARCA5 SMARCA1
8 neurotransmitter receptor localization to postsynaptic specialization membrane GO:0099645 9.26 LGI1 ADAM22
9 gliogenesis GO:0042063 9.16 LGI4 ADAM22
10 ATP-dependent chromatin remodeling GO:0043044 9.1 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6
2 hydrolase activity GO:0016787 9.97 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1 RELN
3 ATPase activity GO:0016887 9.71 SMARCA5 SMARCA4 SMARCA2 SMARCA1
4 integrin binding GO:0005178 9.67 ADAM23 ADAM22 ADAM11
5 histone binding GO:0042393 9.65 SMARCA5 SMARCA4 SMARCA2
6 metallopeptidase activity GO:0008237 9.56 ADAM28 ADAM23 ADAM22 ADAM11
7 metalloendopeptidase activity GO:0004222 9.46 ADAM28 ADAM23 ADAM22 ADAM11
8 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.43 SMARCA5 SMARCA1
9 helicase activity GO:0004386 9.43 SMARCAD1 SMARCA5 SMARCA4 SMARCA2 SMARCA1 ERCC6
10 hydrolase activity, acting on acid anhydrides GO:0016817 9.32 SMARCA4 SMARCA2
11 DNA-dependent ATPase activity GO:0008094 9.1 SMARCAD1 SMARCA5 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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