ETL7
MCID: EPL150
MIFTS: 35

Epilepsy, Familial Temporal Lobe, 7 (ETL7)

Categories: Ear diseases, 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 57 73 29 6
Etl7 57 12 73
Familial Temporal Lobe Epilepsy 7 12 15
Epilepsy, Temporal Lobe, Familial, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 616436
OMIM Phenotypic Series 57 PS600512
MeSH 44 D004833
SNOMED-CT via HPO 68 263681008

Summaries for Epilepsy, Familial Temporal Lobe, 7

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 7, also known as etl7, is related to autosomal dominant epilepsy with auditory features and epilepsy, familial temporal lobe, 1. An important gene associated with Epilepsy, Familial Temporal Lobe, 7 is RELN (Reelin), and among its related pathways/superpathways are Spinocerebellar ataxia and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include temporal lobe, and related phenotypes are focal sensory seizure with auditory features and nervous system

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 seizure with auditory features 31 HP:0011158

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
epilepsy, focal
temporal lobe origin
auditory aura
aphasic symptoms
absence of structural defects

Clinical features from OMIM®:

616436 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Epilepsy, Familial Temporal Lobe, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 DAB1 LGI1 NCAM2 RELN TGFBR2
2 vision/eye MP:0005391 9.02 DAB1 LGI1 NCAM2 RELN TGFBR2

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. 57 6
26046367 2015

Variations for Epilepsy, Familial Temporal Lobe, 7

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

6 (show top 50) (show all 699)
# 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.2168A>G (p.Tyr723Cys) SNV Pathogenic 208482 rs768119894 7:103276817-103276817 7:103636370-103636370
6 RELN NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) SNV Pathogenic 208483 rs797045000 7:103270558-103270558 7:103630111-103630111
7 RELN NM_005045.4(RELN):c.3485dup (p.Ile1163fs) Duplication Pathogenic 840300 7:103236956-103236957 7:103596509-103596510
8 RELN NM_005045.4(RELN):c.2086dup (p.Ser696fs) Duplication Pathogenic 859187 7:103276898-103276899 7:103636451-103636452
9 RELN NM_005045.4(RELN):c.3215del (p.Asp1072fs) Deletion Pathogenic 856842 7:103243869-103243869 7:103603422-103603422
10 RELN NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) Deletion Pathogenic 955573 7:103191613-103191614 7:103551166-103551167
11 RELN NM_005045.4(RELN):c.6314del (p.Phe2105fs) Deletion Likely pathogenic 992962 7:103185780-103185780 7:103545333-103545333
12 RELN NC_000007.14:g.(?_103589576)_(103610827_?)dup Duplication Likely pathogenic 831042 7:103230023-103251274
13 RELN NM_005045.4(RELN):c.9444-1G>A SNV Likely pathogenic 974846 7:103131277-103131277 7:103490830-103490830
14 RELN NM_005045.4(RELN):c.3463dup (p.Leu1155fs) Duplication Likely pathogenic 930436 7:103236978-103236979 7:103596531-103596532
15 RELN NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg) SNV Uncertain significance 931030 7:103197559-103197559 7:103557112-103557112
16 RELN NM_005045.4(RELN):c.3147-9C>G SNV Uncertain significance 931042 7:103243946-103243946 7:103603499-103603499
17 RELN NM_005045.4(RELN):c.2002+10T>C SNV Uncertain significance 931089 7:103290711-103290711 7:103650264-103650264
18 RELN NM_005045.4(RELN):c.10280+7A>G SNV Uncertain significance 932041 7:103123313-103123313 7:103482866-103482866
19 RELN NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) SNV Uncertain significance 208481 rs201044262 7:103281044-103281044 7:103640597-103640597
20 RELN NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) SNV Uncertain significance 130135 rs201422815 7:103180848-103180848 7:103540401-103540401
21 RELN NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile) SNV Uncertain significance 475989 rs1554368281 7:103155637-103155637 7:103515190-103515190
22 RELN NM_005045.4(RELN):c.5489G>A (p.Gly1830Asp) SNV Uncertain significance 475973 rs1255854701 7:103202019-103202019 7:103561572-103561572
23 RELN NM_005045.4(RELN):c.10307_10309TGA[1] (p.Met3437del) Microsatellite Uncertain significance 475948 rs1406481652 7:103113330-103113332 7:103472883-103472885
24 RELN NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) SNV Uncertain significance 197466 rs146877597 7:103185574-103185574 7:103545127-103545127
25 RELN NM_005045.4(RELN):c.3133C>T (p.His1045Tyr) SNV Uncertain significance 475957 rs1554389286 7:103244806-103244806 7:103604359-103604359
26 RELN NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) SNV Uncertain significance 475991 rs777843062 7:103151377-103151377 7:103510930-103510930
27 RELN NM_005045.4(RELN):c.1013T>G (p.Val338Gly) SNV Uncertain significance 282151 rs200513558 7:103338430-103338430 7:103697983-103697983
28 RELN NM_005045.4(RELN):c.2992C>G (p.Leu998Val) SNV Uncertain significance 475956 rs201003473 7:103251158-103251158 7:103610711-103610711
29 RELN NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys) SNV Uncertain significance 475966 rs764417211 7:103214578-103214578 7:103574131-103574131
30 RELN NM_005045.4(RELN):c.4882G>C (p.Val1628Leu) SNV Uncertain significance 560680 rs1436133395 7:103206725-103206725 7:103566278-103566278
31 RELN NM_005045.4(RELN):c.7310A>G (p.Lys2437Arg) SNV Uncertain significance 475986 rs762951578 7:103175802-103175802 7:103535355-103535355
32 RELN NM_005045.4(RELN):c.2313G>T (p.Gln771His) SNV Uncertain significance 475951 rs777581847 7:103276024-103276024 7:103635577-103635577
33 RELN NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) SNV Uncertain significance 475983 rs978248682 7:103179558-103179558 7:103539111-103539111
34 RELN NM_005045.4(RELN):c.9406C>G (p.Leu3136Val) SNV Uncertain significance 475994 rs767535167 7:103132437-103132437 7:103491990-103491990
35 RELN NM_005045.4(RELN):c.2477T>C (p.Val826Ala) SNV Uncertain significance 475953 rs1554394300 7:103270612-103270612 7:103630165-103630165
36 RELN NM_005045.4(RELN):c.7915C>T (p.Arg2639Cys) SNV Uncertain significance 475988 rs770944264 7:103155836-103155836 7:103515389-103515389
37 RELN NM_005045.4(RELN):c.10181+7G>A SNV Uncertain significance 475946 rs1554360619 7:103124093-103124093 7:103483646-103483646
38 RELN NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) SNV Uncertain significance 475970 rs199553777 7:103202386-103202386 7:103561939-103561939
39 RELN NM_005045.4(RELN):c.4517T>A (p.Val1506Asp) SNV Uncertain significance 475967 rs1554381609 7:103212702-103212702 7:103572255-103572255
40 RELN NM_005045.4(RELN):c.8490-3T>C SNV Uncertain significance 475992 rs373564931 7:103141372-103141372 7:103500925-103500925
41 RELN NM_005045.4(RELN):c.1820A>G (p.Glu607Gly) SNV Uncertain significance 475949 rs1554397636 7:103292180-103292180 7:103651733-103651733
42 RELN NM_005045.4(RELN):c.6875G>A (p.Arg2292His) SNV Uncertain significance 475977 rs565382144 7:103180699-103180699 7:103540252-103540252
43 RELN NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys) SNV Uncertain significance 475996 rs376520049 7:103130201-103130201 7:103489754-103489754
44 RELN NM_005045.4(RELN):c.3203C>A (p.Thr1068Lys) SNV Uncertain significance 475958 rs758968274 7:103243881-103243881 7:103603434-103603434
45 RELN NM_005045.4(RELN):c.490C>T (p.Arg164Trp) SNV Uncertain significance 475968 rs776886354 7:103417058-103417058 7:103776611-103776611
46 RELN NM_005045.4(RELN):c.9991A>G (p.Met3331Val) SNV Uncertain significance 475998 rs1554360669 7:103124290-103124290 7:103483843-103483843
47 RELN NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys) SNV Uncertain significance 475975 rs374628146 7:103193949-103193949 7:103553502-103553502
48 RELN NM_005045.4(RELN):c.3655A>G (p.Ile1219Val) SNV Uncertain significance 391656 rs1057524179 7:103234824-103234824 7:103594377-103594377
49 RELN NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) SNV Uncertain significance 130124 rs147657490 7:103205840-103205840 7:103565393-103565393
50 RELN NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) SNV Uncertain significance 475972 rs1244373166 7:103202040-103202040 7:103561593-103561593

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 11.41 RELN DAB1
2 11.33 RELN DAB1
3 11.22 RELN DAB1
4 10.45 RELN DAB1
5 10.09 RELN DAB1

GO Terms for Epilepsy, Familial Temporal Lobe, 7

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 8.8 RELN NCAM2 DAB1

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

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.46 RELN DAB1
2 cerebral cortex development GO:0021987 9.43 RELN DAB1
3 brain development GO:0007420 9.43 TGFBR2 RELN DAB1
4 hippocampus development GO:0021766 9.4 RELN DAB1
5 positive regulation of protein kinase activity GO:0045860 9.37 RELN DAB1
6 axon guidance GO:0007411 9.33 RELN LGI1 DAB1
7 dendrite development GO:0016358 9.32 RELN DAB1
8 ventral spinal cord development GO:0021517 8.96 RELN DAB1
9 lateral motor column neuron migration GO:0097477 8.62 RELN DAB1

Sources for Epilepsy, Familial Temporal Lobe, 7

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
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