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

ETL7 MCID: EPL150 MIFTS: 34	Epilepsy, Familial Temporal Lobe, 7 (ETL7) Categories: 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 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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060751

OMIM ⁵⁶ 616436

OMIM Phenotypic Series ⁵⁶ PS600512

MeSH ⁴³ D004833

MedGen ⁴¹ C4225327 CN231326

SNOMED-CT via HPO ⁶⁸ 263681008

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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.

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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:

(show all 16)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly 2	10.1	RELN LOC101927870
2	chronic venous insufficiency	9.9	MMP12 CRP
3	infective endocarditis	9.9	MMP12 CRP
4	aortic aneurysm, familial abdominal, 1	9.9	MMP12 CRP
5	aortic aneurysm	9.9	MMP12 CRP
6	cecal disease	9.8	HCK CRP
7	mitral valve stenosis	9.8	HCK CRP
8	mitral valve insufficiency	9.8	HCK CRP
9	synovitis	9.8	RELN CRP
10	bronchitis	9.7	MMP12 CRP
11	proteasome-associated autoinflammatory syndrome 1	9.6	MAPK14 CRP
12	chlamydia	9.6	MAPK14 CRP
13	arthritis	9.5	RELN MMP12 CRP
14	cystitis	9.4	MAPK14 CRP
15	pulmonary disease, chronic obstructive	9.3	MMP12 MAPK14 CRP
16	speech and communication disorders	9.2	MAPK14 CRP

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 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

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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. ⁵⁶ ⁶	Dazzo E...Nobile C	26046367	2015
2	Autosomal Dominant Epilepsy with Auditory Features ⁶	Michelucci R...Nobile C	20301709	2007

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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	PubmedIds
1	RELN	Reelin	Protein Coding	1371.75	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	20301709 26046367
2	LOC101927870	Uncharacterized LOC101927870	RNA Gene	9.98	GeneCards inferred via : Variants (show sections)
3	MMP12	Matrix Metallopeptidase 12	Protein Coding	4.94	DISEASES inferred ¹⁵
4	HCK	HCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	4.79	DISEASES inferred ¹⁵
5	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	4.54	DISEASES inferred ¹⁵
6	CRP	C-Reactive Protein	Protein Coding	3.31	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 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>C	SNV	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>G	SNV	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

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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	TGF-beta Signaling Pathway (WikiPathways) ¹	11.53	MMP12 MAPK14
2	Fc-GammaR Pathway ⁶³ Show member pathways Fc-Gamma-RIIB Signaling in B-Cells ⁶³	11.48	MAPK14 HCK
3	MAP Kinase Signaling ⁴	11.37	MAPK14 HCK
4	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	10.93	MAPK14 HCK
5	Thromboxane A2 receptor signaling ¹	10.81	MAPK14 HCK
6	IL-6 signaling pathway ¹ Show member pathways IL6-mediated signaling events ¹	10.73	MAPK14 HCK CRP
7	Regulation of p38-alpha and p38-beta ¹	10.39	MAPK14 HCK

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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

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Sources for Epilepsy, Familial Temporal Lobe, 7

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³³ ICD10 via Orphanet

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⁴⁰ MalaCards

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

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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:

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

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

Sources for Epilepsy, Familial Temporal Lobe, 7