ETL7
MCID: EPL150
MIFTS: 35

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 roberts syndrome and lissencephaly with cerebellar hypoplasia. 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:

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

Clinical features from OMIM:

616436

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 CPLX2 DAB1 LGI1 NCAM2 RELN

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. 6 56
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 520) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RELN NM_005045.4(RELN):c.3485dup (p.Ile1163fs)duplication Pathogenic 840300 7:103236956-103236957 7:103596509-103596510
2 RELN NM_005045.4(RELN):c.2086dup (p.Ser696fs)duplication Pathogenic 859187 7:103276898-103276899 7:103636451-103636452
3 RELN NM_005045.4(RELN):c.3215del (p.Asp1072fs)deletion Pathogenic 856842 7:103243869-103243869 7:103603422-103603422
4 RELN NM_005045.4(RELN):c.2392C>A (p.His798Asn)SNV Pathogenic 199432 rs794727996 7:103275945-103275945 7:103635498-103635498
5 RELN NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)SNV Pathogenic 199433 rs794727997 7:103143605-103143605 7:103503158-103503158
6 RELN NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)SNV Pathogenic 199434 rs794727998 7:103276697-103276697 7:103636250-103636250
7 RELN NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)SNV Pathogenic 199435 rs794727999 7:103131194-103131194 7:103490747-103490747
8 RELN NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)SNV Pathogenic 208483 rs797045000 7:103270558-103270558 7:103630111-103630111
9 RELN NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)SNV Pathogenic 208482 rs768119894 7:103276817-103276817 7:103636370-103636370
10 RELN NC_000007.14:g.(?_103589576)_(103610827_?)dupduplication Likely pathogenic 831042 7:103230023-103251274
11 RELN NM_005045.4(RELN):c.4275A>G (p.Gly1425=)SNV Conflicting interpretations of pathogenicity 713853 7:103216023-103216023 7:103575576-103575576
12 RELN NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)SNV Conflicting interpretations of pathogenicity 433104 rs115035120 7:103124188-103124188 7:103483741-103483741
13 RELN NM_005045.4(RELN):c.408G>C (p.Leu136=)SNV Conflicting interpretations of pathogenicity 436522 rs1554427416 7:103474049-103474049 7:103833602-103833602
14 RELN NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr)SNV Conflicting interpretations of pathogenicity 475965 rs78480723 7:103207075-103207075 7:103566628-103566628
15 RELN NM_005045.4(RELN):c.577+7G>TSNV Conflicting interpretations of pathogenicity 497992 rs188372756 7:103393622-103393622 7:103753175-103753175
16 RELN NM_005045.4(RELN):c.3147-4A>GSNV Conflicting interpretations of pathogenicity 498083 rs375230548 7:103243941-103243941 7:103603494-103603494
17 RELN NM_005045.4(RELN):c.6962C>T (p.Thr2321Met)SNV Conflicting interpretations of pathogenicity 475979 rs116065504 7:103179743-103179743 7:103539296-103539296
18 RELN NM_005045.4(RELN):c.4191C>T (p.Asn1397=)SNV Conflicting interpretations of pathogenicity 501375 rs544646610 7:103216107-103216107 7:103575660-103575660
19 RELN NM_005045.4(RELN):c.4701C>T (p.Asp1567=)SNV Conflicting interpretations of pathogenicity 501999 rs755634872 7:103207094-103207094 7:103566647-103566647
20 RELN NM_005045.4(RELN):c.6072+7G>TSNV Conflicting interpretations of pathogenicity 542603 rs777197865 7:103193901-103193901 7:103553454-103553454
21 RELN NM_005045.4(RELN):c.2637C>T (p.Val879=)SNV Conflicting interpretations of pathogenicity 593365 rs544717229 7:103270452-103270452 7:103630005-103630005
22 RELN NM_005045.4(RELN):c.7644G>A (p.Ser2548=)SNV Conflicting interpretations of pathogenicity 212047 rs150743664 7:103162493-103162493 7:103522046-103522046
23 RELN NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)SNV Conflicting interpretations of pathogenicity 212046 rs114647348 7:103162599-103162599 7:103522152-103522152
24 RELN NM_005045.4(RELN):c.6939T>C (p.Ile2313=)SNV Conflicting interpretations of pathogenicity 212044 rs113498433 7:103179766-103179766 7:103539319-103539319
25 RELN NM_005045.4(RELN):c.9414C>T (p.Ser3138=)SNV Conflicting interpretations of pathogenicity 198012 rs375427974 7:103132429-103132429 7:103491982-103491982
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 RELN NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)SNV Conflicting interpretations of pathogenicity 281243 rs114684479 7:103236965-103236965 7:103596518-103596518
28 RELN NM_005045.4(RELN):c.4182A>G (p.Ser1394=)SNV Conflicting interpretations of pathogenicity 281542 rs147496823 7:103216116-103216116 7:103575669-103575669
29 RELN NM_005045.4(RELN):c.3411C>T (p.Gly1137=)SNV Conflicting interpretations of pathogenicity 287091 rs137974322 7:103237031-103237031 7:103596584-103596584
30 RELN NM_005045.4(RELN):c.1001G>A (p.Arg334His)SNV Conflicting interpretations of pathogenicity 287147 rs146922726 7:103338442-103338442 7:103697995-103697995
31 RELN NM_005045.4(RELN):c.3913-9T>CSNV Conflicting interpretations of pathogenicity 290844 rs372473867 7:103230284-103230284 7:103589837-103589837
32 RELN NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)SNV Conflicting interpretations of pathogenicity 167581 rs114807343 7:103194153-103194153 7:103553706-103553706
33 RELN NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)SNV Conflicting interpretations of pathogenicity 167585 rs143213152 7:103214642-103214642 7:103574195-103574195
34 RELN NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)SNV Conflicting interpretations of pathogenicity 167582 rs41275239 7:103197603-103197603 7:103557156-103557156
35 RELN NM_005045.4(RELN):c.5274G>T (p.Ala1758=)SNV Conflicting interpretations of pathogenicity 167583 rs139102992 7:103202337-103202337 7:103561890-103561890
36 RELN NM_005045.4(RELN):c.77C>T (p.Ala26Val)SNV Conflicting interpretations of pathogenicity 193299 rs144557847 7:103629727-103629727 7:103989280-103989280
37 RELN NM_005045.4(RELN):c.1035A>G (p.Leu345=)SNV Conflicting interpretations of pathogenicity 193678 rs113998363 7:103338408-103338408 7:103697961-103697961
38 RELN NM_005045.4(RELN):c.1386C>T (p.Cys462=)SNV Conflicting interpretations of pathogenicity 194062 rs139321058 7:103301878-103301878 7:103661431-103661431
39 RELN NM_005045.4(RELN):c.2754A>G (p.Gln918=)SNV Conflicting interpretations of pathogenicity 195602 rs114620008 7:103252199-103252199 7:103611752-103611752
40 RELN NM_005045.4(RELN):c.2016G>A (p.Pro672=)SNV Conflicting interpretations of pathogenicity 194745 rs146749232 7:103281043-103281043 7:103640596-103640596
41 RELN NM_005045.4(RELN):c.4872A>G (p.Gln1624=)SNV Conflicting interpretations of pathogenicity 196867 rs149121159 7:103206735-103206735 7:103566288-103566288
42 RELN NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)SNV Conflicting interpretations of pathogenicity 196901 rs362800 7:103205735-103205735 7:103565288-103565288
43 RELN NM_005045.4(RELN):c.6141C>T (p.Phe2047=)SNV Conflicting interpretations of pathogenicity 197439 rs79161241 7:103191675-103191675 7:103551228-103551228
44 RELN NM_005045.4(RELN):c.8843+3A>CSNV Conflicting interpretations of pathogenicity 197969 rs200124755 7:103138521-103138521 7:103498074-103498074
45 RELN NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)SNV Conflicting interpretations of pathogenicity 197982 rs114501042 7:103138354-103138354 7:103497907-103497907
46 RELN NM_005045.4(RELN):c.2376T>C (p.Gly792=)SNV Conflicting interpretations of pathogenicity 95215 rs398124191 7:103275961-103275961 7:103635514-103635514
47 RELN NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)SNV Conflicting interpretations of pathogenicity 95218 rs56342240 7:103234828-103234828 7:103594381-103594381
48 RELN NM_005045.4(RELN):c.474-7T>CSNV Conflicting interpretations of pathogenicity 95221 rs55693709 7:103417081-103417081 7:103776634-103776634
49 RELN NM_005045.4(RELN):c.5643G>A (p.Leu1881=)SNV Conflicting interpretations of pathogenicity 95222 rs141387255 7:103197578-103197578 7:103557131-103557131
50 RELN NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)SNV Conflicting interpretations of pathogenicity 95229 rs150236371 7:103163890-103163890 7:103523443-103523443

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 11.38 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 nervous system development GO:0007399 9.61 LGI1 DAB1 CPLX2
2 neuron migration GO:0001764 9.46 RELN DAB1
3 cerebral cortex development GO:0021987 9.4 RELN DAB1
4 hippocampus development GO:0021766 9.37 RELN DAB1
5 axon guidance GO:0007411 9.33 RELN LGI1 DAB1
6 positive regulation of protein kinase activity GO:0045860 9.32 RELN DAB1
7 dendrite development GO:0016358 9.26 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

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61 PubMed
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72 UMLS via Orphanet
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