Epilepsy, Familial Temporal Lobe, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ETL7 MCID: EPL150 MIFTS: 35	Epilepsy, Familial Temporal Lobe, 7 (ETL7) Categories: Ear diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060751

OMIM® ⁵⁷ 616436

OMIM Phenotypic Series ⁵⁷ PS600512

MeSH ⁴⁴ D004833

MedGen ⁴¹ C4225327 CN231326

SNOMED-CT via HPO ⁶⁸ 263681008

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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.

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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	autosomal dominant epilepsy with auditory features	9.9	RELN LGI1
2	epilepsy, familial temporal lobe, 1	9.8	RELN LGI1
3	lissencephaly with cerebellar hypoplasia	9.8	RELN DAB1
4	temporal lobe epilepsy	9.7	RELN LGI1
5	spinocerebellar ataxia 37	9.6	NCAM2 DAB1

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

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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

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Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 7

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

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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

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Anatomical Context for Epilepsy, Familial Temporal Lobe, 7

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

⁴⁰

Temporal Lobe

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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	Dazzo E...Nobile C	26046367	2015

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Genes for Epilepsy, Familial Temporal Lobe, 7

Genes related to Epilepsy, Familial Temporal Lobe, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RELN	Reelin	Protein Coding	1397.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26046367
2	LOC101927870	Uncharacterized LOC101927870	RNA Gene	10.15	GeneCards inferred via : Variants (show sections)
3	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	7.72	GeneCards inferred via : Variants (show sections)
4	NCAM2	Neural Cell Adhesion Molecule 2	Protein Coding	6.36	DISEASES inferred ¹⁵
5	DAB1	DAB Adaptor Protein 1	Protein Coding	5.96	DISEASES inferred ¹⁵
6	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	5.74	DISEASES inferred ¹⁵

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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

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Expression for Epilepsy, Familial Temporal Lobe, 7

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

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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	Spinocerebellar ataxia ³⁶	11.41	RELN DAB1
2	Reelin Pathway (Cajal-Retzius cells) ⁶³	11.33	RELN DAB1
3	Guidance Cues and Growth Cone Motility ⁶³	11.22	RELN DAB1
4	Lissencephaly gene (LIS1) in neuronal migration and development ¹	10.45	RELN DAB1
5	Reelin signaling pathway ¹	10.09	RELN DAB1

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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

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Sources for Epilepsy, Familial Temporal Lobe, 7

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³³ ICD10 via Orphanet

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Epilepsy, Familial Temporal Lobe, 7 (ETL7)

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 7

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Familial Temporal Lobe, 7

Related Diseases for Epilepsy, Familial Temporal Lobe, 7

Diseases in the Temporal Lobe Epilepsy family:

Diseases related to Epilepsy, Familial Temporal Lobe, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 7

Genetic Tests for Epilepsy, Familial Temporal Lobe, 7

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

Anatomical Context for Epilepsy, Familial Temporal Lobe, 7

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

Publications for Epilepsy, Familial Temporal Lobe, 7

Articles related to Epilepsy, Familial Temporal Lobe, 7:

Genes for Epilepsy, Familial Temporal Lobe, 7

Genes related to Epilepsy, Familial Temporal Lobe, 7 (1 elite genes):

Variations for Epilepsy, Familial Temporal Lobe, 7

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

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

Expression 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:

GO Terms for Epilepsy, Familial Temporal Lobe, 7

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

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

Sources for Epilepsy, Familial Temporal Lobe, 7