ETL7
MCID: EPL150
MIFTS: 34

Epilepsy, Familial Temporal Lobe, 7 (ETL7)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 7

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 7:

Name: Epilepsy, Familial Temporal Lobe, 7 56 73 29 6
Etl7 56 12 73
Familial Temporal Lobe Epilepsy 7 12 15
Epilepsy, Temporal Lobe, Familial, Type 7 39

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial temporal lobe, 7:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060751
OMIM 56 616436
OMIM Phenotypic Series 56 PS600512
MeSH 43 D004833
SNOMED-CT via HPO 68 263681008

Summaries for Epilepsy, Familial Temporal Lobe, 7

OMIM : 56 Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by Dazzo et al., 2015). For a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see 600512. (616436)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 7, also known as etl7, is related to lissencephaly 2 and chronic venous insufficiency. An important gene associated with Epilepsy, Familial Temporal Lobe, 7 is RELN (Reelin), and among its related pathways/superpathways are TGF-beta Signaling Pathway (WikiPathways) and Fc-GammaR Pathway. Affiliated tissues include temporal lobe, and related phenotype is focal sensory auditory seizure.

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.

UniProtKB/Swiss-Prot : 73 Epilepsy, familial temporal lobe, 7: 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, 7

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 7:



Diseases related to Epilepsy, Familial Temporal Lobe, 7

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 7:

31
# Description HPO Frequency HPO Source Accession
1 focal sensory auditory seizure 31 HP:0011158

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
epilepsy, focal
temporal lobe origin
auditory aura
aphasic symptoms
absence of structural defects

Clinical features from OMIM:

616436

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 7

Genetic Tests for Epilepsy, Familial Temporal Lobe, 7

Genetic tests related to Epilepsy, Familial Temporal Lobe, 7:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Temporal Lobe, 7 29 RELN

Anatomical Context for Epilepsy, Familial Temporal Lobe, 7

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 7:

40
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 7

Articles related to Epilepsy, Familial Temporal Lobe, 7:

# Title Authors PMID Year
1
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 56 6
26046367 2015
2
Autosomal Dominant Epilepsy with Auditory Features 6
20301709 2007

Variations for Epilepsy, Familial Temporal Lobe, 7

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 7:

6 (show top 50) (show all 251) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RELN NM_005045.4(RELN):c.2392C>A (p.His798Asn)SNV Pathogenic 199432 rs794727996 7:103275945-103275945 7:103635498-103635498
2 RELN NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)SNV Pathogenic 199433 rs794727997 7:103143605-103143605 7:103503158-103503158
3 RELN NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)SNV Pathogenic 199434 rs794727998 7:103276697-103276697 7:103636250-103636250
4 RELN NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)SNV Pathogenic 199435 rs794727999 7:103131194-103131194 7:103490747-103490747
5 RELN NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)SNV Pathogenic 208483 rs797045000 7:103270558-103270558 7:103630111-103630111
6 RELN NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)SNV Pathogenic 208482 rs768119894 7:103276817-103276817 7:103636370-103636370
7 RELN NM_005045.4(RELN):c.8843+3A>CSNV Conflicting interpretations of pathogenicity 197969 rs200124755 7:103138521-103138521 7:103498074-103498074
8 RELN NM_005045.4(RELN):c.9414C>T (p.Ser3138=)SNV Conflicting interpretations of pathogenicity 198012 rs375427974 7:103132429-103132429 7:103491982-103491982
9 RELN NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)SNV Conflicting interpretations of pathogenicity 212029 rs143050366 7:103338335-103338335 7:103697888-103697888
10 RELN NM_005045.4(RELN):c.7114G>A (p.Val2372Met)SNV Conflicting interpretations of pathogenicity 130140 rs114344654 7:103179591-103179591 7:103539144-103539144
11 RELN NM_005045.4(RELN):c.1001G>A (p.Arg334His)SNV Conflicting interpretations of pathogenicity 287147 rs146922726 7:103338442-103338442 7:103697995-103697995
12 RELN NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)SNV Conflicting interpretations of pathogenicity 358386 rs375985673 7:103155746-103155746 7:103515299-103515299
13 RELN NM_005045.4(RELN):c.9172T>C (p.Leu3058=)SNV Conflicting interpretations of pathogenicity 358382 rs2286261 7:103136994-103136994 7:103496547-103496547
14 RELN NM_005045.4(RELN):c.408G>C (p.Leu136=)SNV Conflicting interpretations of pathogenicity 436522 rs1554427416 7:103474049-103474049 7:103833602-103833602
15 RELN NM_005045.4(RELN):c.6147G>A (p.Ala2049=)SNV Conflicting interpretations of pathogenicity 358391 rs116750302 7:103191669-103191669 7:103551222-103551222
16 RELN NM_005045.4(RELN):c.4191C>T (p.Asn1397=)SNV Conflicting interpretations of pathogenicity 501375 rs544646610 7:103216107-103216107 7:103575660-103575660
17 RELN NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys)SNV Uncertain significance 501409 rs766869538 7:103162547-103162547 7:103522100-103522100
18 RELN NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys)SNV Uncertain significance 501653 rs771201055 7:103275884-103275884 7:103635437-103635437
19 RELN NM_005045.4(RELN):c.9109G>C (p.Glu3037Gln)SNV Uncertain significance 542580 rs142059680 7:103137057-103137057 7:103496610-103496610
20 RELN NM_005045.4(RELN):c.7668G>C (p.Gly2556=)SNV Uncertain significance 542559 rs1554369642 7:103162469-103162469 7:103522022-103522022
21 RELN NM_005045.4(RELN):c.7423G>A (p.Val2475Ile)SNV Uncertain significance 542566 rs764015748 7:103163905-103163905 7:103523458-103523458
22 RELN NM_005045.4(RELN):c.7055A>T (p.Asp2352Val)SNV Uncertain significance 542569 rs143688278 7:103179650-103179650 7:103539203-103539203
23 RELN NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly)SNV Uncertain significance 542579 rs1023433954 7:103185693-103185693 7:103545246-103545246
24 RELN NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg)SNV Uncertain significance 542571 rs1481028795 7:103205930-103205930 7:103565483-103565483
25 RELN NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)SNV Uncertain significance 542574 rs56146903 7:103301928-103301928 7:103661481-103661481
26 RELN NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu)SNV Uncertain significance 542570 rs1554379129 7:103202353-103202353 7:103561906-103561906
27 RELN NM_005045.4(RELN):c.4985C>T (p.Thr1662Ile)SNV Uncertain significance 542576 rs750833122 7:103205950-103205950 7:103565503-103565503
28 RELN NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)SNV Uncertain significance 542575 rs896069835 7:103214609-103214609 7:103574162-103574162
29 RELN NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser)SNV Uncertain significance 542567 rs750302438 7:103234773-103234773 7:103594326-103594326
30 RELN NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)SNV Uncertain significance 542564 rs779530655 7:103301885-103301885 7:103661438-103661438
31 RELN NM_005045.4(RELN):c.1250A>G (p.Gln417Arg)SNV Uncertain significance 542568 rs1554402126 7:103322602-103322602 7:103682155-103682155
32 RELN NM_005045.4(RELN):c.4936+5A>GSNV Uncertain significance 542573 rs1554380236 7:103206666-103206666 7:103566219-103566219
33 RELN NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr)SNV Uncertain significance 542558 rs753346658 7:103207186-103207186 7:103566739-103566739
34 RELN NM_005045.4(RELN):c.2158C>G (p.Leu720Val)SNV Uncertain significance 542562 rs1554395337 7:103276827-103276827 7:103636380-103636380
35 RELN NM_005045.4(RELN):c.1252G>A (p.Glu418Lys)SNV Uncertain significance 542572 rs983845835 7:103322600-103322600 7:103682153-103682153
36 RELN NM_005045.4(RELN):c.1194C>T (p.Gly398=)SNV Uncertain significance 542584 rs761288381 7:103322658-103322658 7:103682211-103682211
37 RELN NM_005045.4(RELN):c.576A>G (p.Leu192=)SNV Uncertain significance 542595 rs142874980 7:103393630-103393630 7:103753183-103753183
38 RELN NM_005045.4(RELN):c.59C>T (p.Thr20Met)SNV Uncertain significance 542588 rs145135688 7:103629745-103629745 7:103989298-103989298
39 RELN NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)SNV Uncertain significance 542578 rs200409290 7:103191650-103191650 7:103551203-103551203
40 RELN NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu)SNV Uncertain significance 542577 rs1442238479 7:103130283-103130283 7:103489836-103489836
41 RELN NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys)SNV Uncertain significance 542583 rs774630932 7:103136319-103136319 7:103495872-103495872
42 RELN NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly)SNV Uncertain significance 542581 rs754745320 7:103185582-103185582 7:103545135-103545135
43 RELN NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser)SNV Uncertain significance 542563 rs771681966 7:103151311-103151311 7:103510864-103510864
44 RELN NM_005045.4(RELN):c.8146G>A (p.Asp2716Asn)SNV Uncertain significance 542586 rs771804551 7:103151426-103151426 7:103510979-103510979
45 RELN NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu)SNV Uncertain significance 358396 rs886061856 7:103205769-103205769 7:103565322-103565322
46 RELN NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp)SNV Uncertain significance 358401 rs140263617 7:103214570-103214570 7:103574123-103574123
47 RELN NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys)SNV Uncertain significance 475996 rs376520049 7:103130201-103130201 7:103489754-103489754
48 RELN NM_005045.4(RELN):c.4517T>A (p.Val1506Asp)SNV Uncertain significance 475967 rs1554381609 7:103212702-103212702 7:103572255-103572255
49 RELN NM_005045.4(RELN):c.3133C>T (p.His1045Tyr)SNV Uncertain significance 475957 rs1554389286 7:103244806-103244806 7:103604359-103604359
50 RELN NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg)SNV Uncertain significance 475945 rs753769576 7:103124179-103124179 7:103483732-103483732

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 7:

73
# Symbol AA change Variation ID SNP ID
1 RELN p.Pro672Leu VAR_073862 rs201044262
2 RELN p.Tyr723Cys VAR_073863 rs768119894
3 RELN p.Asp763Gly VAR_073864 rs794727998
4 RELN p.His798Asn VAR_073865 rs794727996
5 RELN p.Pro844Leu VAR_073866 rs797045000
6 RELN p.Gly2783Cys VAR_073867 rs794727997
7 RELN p.Glu3176Lys VAR_073868 rs794727999

Expression for Epilepsy, Familial Temporal Lobe, 7

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 7.

Pathways for Epilepsy, Familial Temporal Lobe, 7

Pathways related to Epilepsy, Familial Temporal Lobe, 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.53 MMP12 MAPK14
2
Show member pathways
11.48 MAPK14 HCK
3 11.37 MAPK14 HCK
4 10.93 MAPK14 HCK
5 10.81 MAPK14 HCK
6
Show member pathways
10.73 MAPK14 HCK CRP
7 10.39 MAPK14 HCK

GO Terms for Epilepsy, Familial Temporal Lobe, 7

Biological processes related to Epilepsy, Familial Temporal Lobe, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.43 MMP12 MAPK14 CRP
2 lipopolysaccharide-mediated signaling pathway GO:0031663 9.16 MAPK14 HCK
3 regulation of DNA-binding transcription factor activity GO:0051090 8.96 MAPK14 HCK
4 cellular response to virus GO:0098586 8.62 MMP12 MAPK14

Sources for Epilepsy, Familial Temporal Lobe, 7

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