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: 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 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.

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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	roberts syndrome	9.9	RELN LOC101927870
2	lissencephaly with cerebellar hypoplasia	9.9	RELN DAB1
3	spinocerebellar ataxia 37	9.7	NCAM2 DAB1
4	autosomal dominant epilepsy with auditory features	9.7	RELN LGI1
5	epilepsy, familial temporal lobe, 1	9.6	RELN LGI1
6	temporal lobe epilepsy	9.6	RELN LGI1
7	adolescence-adult electroclinical syndrome	9.5	LGI1 DAB1
8	benign epilepsy with centrotemporal spikes	9.5	RELN LGI1
9	focal epilepsy	9.3	RELN LGI1

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:

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

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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. ⁶ ⁵⁶	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	1372.09	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	26046367 20301709
2	LOC101927870	Uncharacterized LOC101927870	RNA Gene	10.15	GeneCards inferred via : Variants (show sections)
3	NCAM2	Neural Cell Adhesion Molecule 2	Protein Coding	6.25	DISEASES inferred ¹⁵
4	DAB1	DAB Adaptor Protein 1	Protein Coding	6	DISEASES inferred ¹⁵
5	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	5.7	DISEASES inferred ¹⁵
6	CPLX2	Complexin 2	Protein Coding	5.59	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 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_?)dup	duplication	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>T	SNV	Conflicting interpretations of pathogenicity	497992	rs188372756	7:103393622-103393622	7:103753175-103753175
16	RELN	NM_005045.4(RELN):c.3147-4A>G	SNV	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>T	SNV	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>C	SNV	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>C	SNV	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>C	SNV	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

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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	11.38	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	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

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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