ETL1
MCID: EPL114
MIFTS: 44

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 57 74 13
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 57 29 6 72
Adpeaf 57 74 55
Etl1 57 12 74
Partial Epilepsy with Auditory Features 12 74
Familial Temporal Lobe Epilepsy 1 12 15
Adlte 57 74
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Adlte 57
Epilepsy, Partial, with Auditory Features; Adpeaf 57
Lateral Temporal Lobe Epilepsy Autosomal Dominant 74
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:

Disease Ontology 12 DOID:0060748
MeSH 44 D004833
UMLS 72 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 AMPK Enzyme Complex Pathway 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 : 74 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 30)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant epilepsy with auditory features 33.3 RELN LGI1
2 autosomal dominant partial epilepsy with auditory features 11.7
3 temporal epilepsy, familial 11.4
4 epilepsy, familial temporal lobe, 2 11.3
5 temporal lobe epilepsy 10.3
6 glioma 10.3
7 glial tumor 10.3
8 respiratory failure 10.2
9 skeletal dysplasias 10.2
10 glioblastoma multiforme 10.2
11 glioblastoma 10.2
12 visual epilepsy 10.1
13 status epilepticus 10.1
14 epilepsy 10.1
15 focal epilepsy 10.1
16 depdc5-related epilepsy 10.1
17 seizure disorder 10.1
18 rapidly involuting congenital hemangioma 10.1
19 limbic encephalitis 10.1 LGI1 ADAM22
20 epilepsy, idiopathic generalized 10.0
21 aphasia 10.0
22 alpha thalassemia-x-linked intellectual disability syndrome 9.7 SMARCA4 SMARCA2
23 enamel erosion 9.7 SMARCA4 SMARCA2
24 tooth erosion 9.7 SMARCA4 SMARCA2
25 root caries 9.6 SMARCA4 SMARCA2
26 schimke immunoosseous dysplasia 9.6 SMARCA4 SMARCA2
27 gingival disease 9.5 SMARCA4 SMARCA2
28 borjeson-forssman-lehmann syndrome 9.5 SMARCA4 SMARCA2
29 small cell carcinoma 9.4 SMARCA4 SMARCA2
30 coffin-siris syndrome 1 9.2 SMARCA4 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

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

32
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 32 HP:0002384
2 generalized tonic-clonic seizures with focal onset 32 HP:0007334
3 focal aware seizure 32 HP:0002349
4 focal sensory auditory seizure 32 HP:0011158

Symptoms via clinical synopsis from OMIM:

57
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 ionizing radiation sensitivity GR00232-A-1 9.02 ADAM22 LGI3 MICAL1 SMARCA2 SMARCA4

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 9.56 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

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:

41
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. 9 8 71
12205652 2002
2
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. 8 71
22496201 2012
3
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 8 71
17562837 2007
4
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 8 71
11810107 2002
5
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 9 8
18711109 2008
6
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 9 71
15857855 2005
7
LGI1 mutations in temporal lobe epilepsies. 9 8
15079010 2004
8
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 9 8
15079011 2004
9
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 9 71
12771268 2003
10
Altered language processing in autosomal dominant partial epilepsy with auditory features. 8
19064878 2008
11
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. 71
18625862 2008
12
Autosomal Dominant Epilepsy with Auditory Features 71
20301709 2007
13
Two novel epilepsy-linked mutations leading to a loss of function of LGI1. 71
17296837 2007
14
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 71
15349881 2004
15
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. 71
12601709 2003
16
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. 71
11978770 2002
17
Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. 8
11906506 2002
18
Supporting evidence of a gene for partial epilepsy on 10q. 8
11085594 2000
19
Autosomal dominant partial epilepsy with auditory features: defining the phenotype. 8
10851389 2000
20
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. 8
9989620 1999
21
Familial temporal lobe epilepsy: a common disorder identified in twins. 8
8773604 1996
22
Localization of a gene for partial epilepsy to chromosome 10q. 8
7647791 1995
23
SMARCAD1 is an ATP-dependent stimulator of nucleosomal H2A acetylation via CBP, resulting in transcriptional regulation. 38
26888216 2016
24
Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. 9
19780791 2010
25
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 9
20133599 2010
26
The SNF2-family member Fun30 promotes gene silencing in heterochromatic loci. 38
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. 9
19552651 2009
28
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. 9
19701204 2009
29
Lateral temporal lobe epilepsies: clinical and genetic features. 9
19469848 2009
30
[Clinical features in a Japanese patient with autosomal dominant lateral temporal epilepsy having LGI1 mutation]. 9
19462817 2009
31
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 9
19191227 2009
32
[Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy]. 9
19537038 2009
33
Expression profile of Lgi1 gene in mouse brain during development. 9
18563303 2008
34
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. 9
18440780 2008
35
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. 9
18355961 2008
36
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. 9
17681454 2007
37
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 9
16990550 2006
38
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 9
16518856 2006
39
The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. 9
16504945 2006
40
LGI1: a gene involved in epileptogenesis and glioma progression? 9
15827762 2005
41
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. 9
15660777 2005
42
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. 9
15009222 2004
43
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. 9
14510822 2003
44
Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patients. 9
14598228 2003
45
Skeletal dysplasias, growth retardation, reduced postnatal survival, and impaired fertility in mice lacking the SNF2/SWI2 family member ETL1. 38
10415348 1999
46
Isolation and partial characterization of N-acetyl-D-galactosamine-binding lectins from Epiphragmophora trenquelleonis snail. 38
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 120)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LGI1 NM_005097.4(LGI1): c.1128G> A (p.Trp376Ter) single nucleotide variant Pathogenic rs1060502053 10:95557014-95557014 10:93797257-93797257
2 LGI1 NM_005097.4(LGI1): c.1256T> G (p.Leu419Ter) single nucleotide variant Pathogenic rs1554907787 10:95557142-95557142 10:93797385-93797385
3 LGI1 NM_005097.4(LGI1): c.1158_1168dup (p.Thr390delinsLysTer) duplication Pathogenic rs1554907767 10:95557044-95557054 10:93797287-93797297
4 LGI1 NM_005097.4(LGI1): c.1148A> C (p.Glu383Ala) single nucleotide variant Pathogenic rs28937874 10:95557034-95557034 10:93797277-93797277
5 LGI1 LGI1, 1-BP DEL, 835C deletion Pathogenic
6 LGI1 LGI1, IVS3AS, C-A, -3 single nucleotide variant Pathogenic
7 LGI1 NM_005097.4(LGI1): c.136T> C (p.Cys46Arg) single nucleotide variant Pathogenic rs104894166 10:95518037-95518037 10:93758280-93758280
8 LGI1 NM_005097.4(LGI1): c.688C> T (p.Gln230Ter) single nucleotide variant Pathogenic rs1060502054 10:95552957-95552957 10:93793200-93793200
9 LGI1 LGI1, 1320C-T single nucleotide variant Pathogenic
10 LGI1 NM_005097.4(LGI1): c.953T> G (p.Phe318Cys) single nucleotide variant Pathogenic rs28939075 10:95556839-95556839 10:93797082-93797082
11 LGI1 LGI1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
12 LGI1 NM_005097.4(LGI1): c.695T> C (p.Leu232Pro) single nucleotide variant Pathogenic rs104894167 10:95552964-95552964 10:93793207-93793207
13 LGI1 NM_005097.4(LGI1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs119488099 10:95537349-95537349 10:93777592-93777592
14 LGI1 NM_005097.4(LGI1): c.365T> A (p.Ile122Lys) single nucleotide variant Pathogenic rs119488100 10:95537308-95537308 10:93777551-93777551
15 LGI1 LGI1, 81-KB DEL deletion Pathogenic
16 LGI1 NM_005097.4(LGI1): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs797044996 10:95518025-95518025 10:93758268-93758268
17 LGI1 NM_005097.4(LGI1): c.124T> G (p.Cys42Gly) single nucleotide variant Pathogenic rs797044996 10:95518025-95518025 10:93758268-93758268
18 LGI1 NM_005097.4(LGI1): c.758del (p.Ala253fs) deletion Pathogenic rs797044997 10:95553027-95553027 10:93793270-93793270
19 LGI1 NM_005097.4(LGI1): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs797044999 10:95557304-95557304 10:93797547-93797547
20 LGI1 NM_005097.4(LGI1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs797044998 10:95557306-95557306 10:93797549-93797549
21 LGI1 NC_000010.11: g.(93704377_?)_(?_93785620)del deletion Pathogenic 10:95464133-95545376 10:93704377-93785620
22 LGI1 NM_005097.4(LGI1): c.386C> G (p.Ser129Ter) single nucleotide variant Pathogenic 10:95537329-95537329 10:93777572-93777572
23 LGI1 NM_005097.4(LGI1): c.1580_1581del (p.His527fs) deletion Pathogenic 10:95557466-95557467 10:93797709-93797710
24 LGI1 NM_005097.4(LGI1): c.1013T> C (p.Phe338Ser) single nucleotide variant Pathogenic rs869025201 10:95556899-95556899 10:93797142-93797142
25 LGI1 NM_005097.4(LGI1): c.504-1G> T single nucleotide variant Likely pathogenic 10:95552499-95552499 10:93792742-93792742
26 LGI1 NM_005097.4(LGI1): c.1392G> A (p.Ser464=) single nucleotide variant Conflicting interpretations of pathogenicity rs148804268 10:95557278-95557278 10:93797521-93797521
27 LGI1 NM_005097.4(LGI1): c.600C> T (p.Cys200=) single nucleotide variant Conflicting interpretations of pathogenicity rs148862146 10:95552596-95552596 10:93792839-93792839
28 LGI1 NM_005097.4(LGI1): c.1155A> C (p.Leu385=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148793 10:95557041-95557041 10:93797284-93797284
29 LGI1 NM_005097.4(LGI1): c.717A> C (p.Ile239=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425212 10:95552986-95552986 10:93793229-93793229
30 LGI1 NM_005097.4(LGI1): c.345A> G (p.Pro115=) single nucleotide variant Conflicting interpretations of pathogenicity rs151104648 10:95537193-95537193 10:93777436-93777436
31 LGI1 NM_005097.4(LGI1): c.1A> G (p.Met1Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202204627 10:95517902-95517902 10:93758145-93758145
32 LGI1 NM_005097.4(LGI1): c.837A> G (p.Thr279=) single nucleotide variant Uncertain significance rs755068491 10:95553106-95553106 10:93793349-93793349
33 LGI1 NM_005097.4(LGI1): c.310G> A (p.Asp104Asn) single nucleotide variant Uncertain significance rs145675377 10:95537158-95537158 10:93777401-93777401
34 LGI1 NM_005097.4(LGI1): c.407G> A (p.Arg136Gln) single nucleotide variant Uncertain significance rs767254591 10:95537350-95537350 10:93777593-93777593
35 RELN NM_005045.4(RELN): c.4495G> C (p.Asp1499His) single nucleotide variant Uncertain significance rs200428576 7:103214555-103214555 7:103574108-103574108
36 RELN NM_005045.4(RELN): c.5468C> A (p.Ala1823Glu) single nucleotide variant Uncertain significance rs1244373166 7:103202040-103202040 7:103561593-103561593
37 RELN NM_005045.4(RELN): c.5225G> A (p.Arg1742Gln) single nucleotide variant Uncertain significance rs199553777 7:103202386-103202386 7:103561939-103561939
38 LGI1 NM_005097.4(LGI1): c.398A> G (p.His133Arg) single nucleotide variant Uncertain significance rs376452111 10:95537341-95537341 10:93777584-93777584
39 LGI1 NM_005097.4(LGI1): c.1370T> C (p.Val457Ala) single nucleotide variant Uncertain significance rs1554907821 10:95557256-95557256 10:93797499-93797499
40 LGI1 NM_005097.4(LGI1): c.1439_1442del (p.Gln480fs) deletion Uncertain significance rs1554907835 10:95557325-95557328 10:93797568-93797571
41 LGI1 NM_005097.4(LGI1): c.46C> G (p.Leu16Val) single nucleotide variant Uncertain significance rs777973395 10:95517947-95517947 10:93758190-93758190
42 LGI1 NM_005097.4(LGI1): c.143G> A (p.Cys48Tyr) single nucleotide variant Uncertain significance rs1554901937 10:95518044-95518044 10:93758287-93758287
43 LGI1 NM_005097.4(LGI1): c.1220G> A (p.Arg407His) single nucleotide variant Uncertain significance rs201376381 10:95557106-95557106 10:93797349-93797349
44 RELN NM_005045.4(RELN): c.5668A> G (p.Ile1890Val) single nucleotide variant Uncertain significance rs147026512 7:103197553-103197553 7:103557106-103557106
45 RELN NM_005045.4(RELN): c.8212C> T (p.Arg2738Trp) single nucleotide variant Uncertain significance rs202166176 7:103151360-103151360 7:103510913-103510913
46 RELN NM_005045.4(RELN): c.1336G> C (p.Glu446Gln) single nucleotide variant Uncertain significance rs56146903 7:103301928-103301928 7:103661481-103661481
47 RELN NM_005045.4(RELN): c.59C> T (p.Thr20Met) single nucleotide variant Uncertain significance rs145135688 7:103629745-103629745 7:103989298-103989298
48 RELN NM_005045.4(RELN): c.3197C> T (p.Pro1066Leu) single nucleotide variant Uncertain significance rs116225248 7:103243887-103243887 7:103603440-103603440
49 LGI1 NM_005097.4(LGI1): c.299C> T (p.Ser100Leu) single nucleotide variant Uncertain significance rs1263918669 10:95537147-95537147 10:93777390-93777390
50 LGI1 NM_005097.4(LGI1): c.634A> G (p.Asn212Asp) single nucleotide variant Uncertain significance rs757629755 10:95552630-95552630 10:93792873-93792873

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

74 (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
11.67 SMARCAD1 SMARCA4 SMARCA2
2 11.66 SMARCAD1 SMARCA4 SMARCA2 BTAF1
3
Show member pathways
11.25 SMARCAD1 SMARCA4 SMARCA2
4
Show member pathways
11.17 SMARCA4 SMARCA2
5 10.1 LGI4 LGI3 LGI1 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 SWI/SNF complex GO:0016514 9.16 SMARCA4 SMARCA2
2 nBAF complex GO:0071565 8.96 SMARCA4 SMARCA2
3 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 chromatin remodeling GO:0006338 9.33 SMARCAD1 SMARCA4 SMARCA2
2 adult locomotory behavior GO:0008344 9.32 LGI4 ADAM22
3 myelination in peripheral nervous system GO:0022011 9.26 LGI4 ADAM22
4 gliogenesis GO:0042063 8.96 LGI4 ADAM22
5 ATP-dependent chromatin remodeling GO:0043044 8.8 SMARCAD1 SMARCA4 SMARCA2

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 SMARCAD1 SMARCA4 SMARCA2 RELN BTAF1
2 DNA-dependent ATPase activity GO:0008094 9.16 SMARCA4 SMARCA2
3 hydrolase activity, acting on acid anhydrides GO:0016817 8.96 SMARCA4 SMARCA2
4 helicase activity GO:0004386 8.92 SMARCAD1 SMARCA4 SMARCA2 BTAF1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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