ETL7
MCID: EPL150
MIFTS: 26

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 57 74 29 6
Etl7 57 12 74
Epilepsy, Temporal Lobe, Familial, Type 7 40
Familial Temporal Lobe Epilepsy 7 12

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

32
epilepsy, familial temporal lobe, 7:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060751
MeSH 44 D004833

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)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 7, also known as etl7, is related to lissencephaly 2. An important gene associated with Epilepsy, Familial Temporal Lobe, 7 is RELN (Reelin). 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 : 74 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

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, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 8.6 RELN LOC105375435 LOC101927870

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

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

32
# Description HPO Frequency HPO Source Accession
1 focal sensory auditory seizure 32 HP:0011158

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
26046367 2015
2
Autosomal Dominant Epilepsy with Auditory Features 71
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 342)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RELN NM_005045.4(RELN): c.2392C> A (p.His798Asn) single nucleotide variant Pathogenic rs794727996 7:103275945-103275945 7:103635498-103635498
2 RELN NM_005045.4(RELN): c.8347G> T (p.Gly2783Cys) single nucleotide variant Pathogenic rs794727997 7:103143605-103143605 7:103503158-103503158
3 RELN NM_005045.4(RELN): c.2288A> G (p.Asp763Gly) single nucleotide variant Pathogenic rs794727998 7:103276697-103276697 7:103636250-103636250
4 RELN NM_005045.4(RELN): c.9526G> A (p.Glu3176Lys) single nucleotide variant Pathogenic rs794727999 7:103131194-103131194 7:103490747-103490747
5 RELN NM_005045.4(RELN): c.2531C> T (p.Pro844Leu) single nucleotide variant Pathogenic rs797045000 7:103270558-103270558 7:103630111-103630111
6 RELN NM_005045.4(RELN): c.2168A> G (p.Tyr723Cys) single nucleotide variant Pathogenic rs768119894 7:103276817-103276817 7:103636370-103636370
7 RELN NM_005045.4(RELN): c.8863C> T (p.Arg2955Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114501042 7:103138354-103138354 7:103497907-103497907
8 RELN NM_005045.4(RELN): c.2754A> G (p.Gln918=) single nucleotide variant Conflicting interpretations of pathogenicity rs114620008 7:103252199-103252199 7:103611752-103611752
9 RELN NM_005045.4(RELN): c.3123C> T (p.Gly1041=) single nucleotide variant Conflicting interpretations of pathogenicity rs41276148 7:103244816-103244816 7:103604369-103604369
10 RELN NM_005045.4(RELN): c.5200C> G (p.Leu1734Val) single nucleotide variant Conflicting interpretations of pathogenicity rs362800 7:103205735-103205735 7:103565288-103565288
11 RELN NM_005045.4(RELN): c.6141C> T (p.Phe2047=) single nucleotide variant Conflicting interpretations of pathogenicity rs79161241 7:103191675-103191675 7:103551228-103551228
12 RELN NM_005045.4(RELN): c.7644G> A (p.Ser2548=) single nucleotide variant Conflicting interpretations of pathogenicity rs150743664 7:103162493-103162493 7:103522046-103522046
13 RELN NM_005045.4(RELN): c.7538C> G (p.Ser2513Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114647348 7:103162599-103162599 7:103522152-103522152
14 RELN NM_005045.4(RELN): c.6939T> C (p.Ile2313=) single nucleotide variant Conflicting interpretations of pathogenicity rs113498433 7:103179766-103179766 7:103539319-103539319
15 RELN NM_005045.4(RELN): c.6078C> T (p.Asn2026=) single nucleotide variant Conflicting interpretations of pathogenicity rs79610081 7:103191738-103191738 7:103551291-103551291
16 RELN NM_005045.4(RELN): c.3477C> A (p.Asn1159Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114684479 7:103236965-103236965 7:103596518-103596518
17 RELN NM_005045.4(RELN): c.4182A> G (p.Ser1394=) single nucleotide variant Conflicting interpretations of pathogenicity rs147496823 7:103216116-103216116 7:103575669-103575669
18 RELN NM_005045.4(RELN): c.6213C> T (p.Thr2071=) single nucleotide variant Conflicting interpretations of pathogenicity rs554215103 7:103191603-103191603 7:103551156-103551156
19 RELN NM_005045.4(RELN): c.6343G> A (p.Gly2115Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116716038 7:103185751-103185751 7:103545304-103545304
20 RELN NM_005045.4(RELN): c.3651C> G (p.Ile1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs56342240 7:103234828-103234828 7:103594381-103594381
21 RELN NM_005045.4(RELN): c.2376T> C (p.Gly792=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124191 7:103275961-103275961 7:103635514-103635514
22 RELN NM_005045.4(RELN): c.7114G> A (p.Val2372Met) single nucleotide variant Conflicting interpretations of pathogenicity rs114344654 7:103179591-103179591 7:103539144-103539144
23 RELN NM_005045.4(RELN): c.5274G> T (p.Ala1758=) single nucleotide variant Conflicting interpretations of pathogenicity rs139102992 7:103202337-103202337 7:103561890-103561890
24 RELN NM_005045.4(RELN): c.77C> T (p.Ala26Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144557847 7:103629727-103629727 7:103989280-103989280
25 RELN NM_005045.4(RELN): c.5618C> T (p.Thr1873Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41275239 7:103197603-103197603 7:103557156-103557156
26 RELN NM_005045.4(RELN): c.2016G> A (p.Pro672=) single nucleotide variant Conflicting interpretations of pathogenicity rs146749232 7:103281043-103281043 7:103640596-103640596
27 RELN NM_005045.4(RELN): c.3642C> T (p.Val1214=) single nucleotide variant Conflicting interpretations of pathogenicity rs151252449 7:103234837-103234837 7:103594390-103594390
28 RELN NM_005045.4(RELN): c.877G> A (p.Asp293Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200289289 7:103341382-103341382 7:103700935-103700935
29 RELN NM_005045.4(RELN): c.408G> C (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs1554427416 7:103474049-103474049 7:103833602-103833602
30 RELN NM_005045.4(RELN): c.8154A> T (p.Thr2718=) single nucleotide variant Conflicting interpretations of pathogenicity rs1554367205 7:103151418-103151418 7:103510971-103510971
31 RELN NM_005045.4(RELN): c.10093G> A (p.Val3365Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs115035120 7:103124188-103124188 7:103483741-103483741
32 RELN NM_005045.4(RELN): c.4720G> A (p.Ala1574Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs78480723 7:103207075-103207075 7:103566628-103566628
33 RELN NM_005045.4(RELN): c.4191C> T (p.Asn1397=) single nucleotide variant Conflicting interpretations of pathogenicity rs544646610 7:103216107-103216107 7:103575660-103575660
34 RELN NM_005045.4(RELN): c.474-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55693709 7:103417081-103417081 7:103776634-103776634
35 RELN NM_005045.4(RELN): c.5643G> A (p.Leu1881=) single nucleotide variant Conflicting interpretations of pathogenicity rs141387255 7:103197578-103197578 7:103557131-103557131
36 RELN NM_005045.4(RELN): c.6084C> T (p.Gly2028=) single nucleotide variant Conflicting interpretations of pathogenicity rs114019779 7:103191732-103191732 7:103551285-103551285
37 RELN NM_005045.4(RELN): c.7438G> A (p.Gly2480Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150236371 7:103163890-103163890 7:103523443-103523443
38 RELN NM_005045.4(RELN): c.9340A> G (p.Ile3114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149613347 7:103136199-103136199 7:103495752-103495752
39 RELN NM_005045.4(RELN): c.9825C> T (p.Ser3275=) single nucleotide variant Conflicting interpretations of pathogenicity rs149713137 7:103126802-103126802 7:103486355-103486355
40 RELN NM_005045.4(RELN): c.5108C> G (p.Pro1703Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs2229860 7:103205827-103205827 7:103565380-103565380
41 RELN NM_005045.4(RELN): c.5156C> T (p.Ser1719Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs115913736 7:103205779-103205779 7:103565332-103565332
42 RELN NM_005045.4(RELN): c.5775A> G (p.Arg1925=) single nucleotide variant Conflicting interpretations of pathogenicity rs2711866 7:103197446-103197446 7:103556999-103556999
43 RELN NM_005045.4(RELN): c.5796C> T (p.Asn1932=) single nucleotide variant Conflicting interpretations of pathogenicity rs200299096 7:103197425-103197425 7:103556978-103556978
44 RELN NM_005045.4(RELN): c.9414C> T (p.Ser3138=) single nucleotide variant Conflicting interpretations of pathogenicity rs375427974 7:103132429-103132429 7:103491982-103491982
45 RELN NM_005045.4(RELN): c.246C> G (p.Thr82=) single nucleotide variant Conflicting interpretations of pathogenicity rs113242008 7:103557613-103557613 7:103917166-103917166
46 RELN NM_005045.4(RELN): c.3913-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs372473867 7:103230284-103230284 7:103589837-103589837
47 RELN NM_005045.4(RELN): c.9524A> C (p.His3175Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs74513461 7:103131196-103131196 7:103490749-103490749
48 RELN NM_005045.4(RELN): c.5599A> C (p.Arg1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs753376558 7:103198427-103198427 7:103557980-103557980
49 RELN NM_005045.4(RELN): c.3424T> A (p.Ser1142Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145484343 7:103237018-103237018 7:103596571-103596571
50 RELN NM_005045.4(RELN): c.3060C> T (p.Asp1020=) single nucleotide variant Conflicting interpretations of pathogenicity rs115886170 7:103244879-103244879 7:103604432-103604432

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

74
# 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

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Pathways for Epilepsy, Familial Temporal Lobe, 7

GO Terms for Epilepsy, Familial Temporal Lobe, 7

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