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

ETL7 MCID: EPL150 MIFTS: 20	Epilepsy, Familial Temporal Lobe, 7 (ETL7) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases 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 ⁷⁵ ²⁹ ⁶

Etl7 ⁵⁷ ¹² ⁷⁵

Epilepsy, Temporal Lobe, Familial, Type 7 ⁴⁰

Familial Temporal Lobe Epilepsy 7 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616436

Disease Ontology ¹² DOID:0060751

MedGen ⁴² C4225327 CN231326

MeSH ⁴⁴ D004833

SNOMED-CT via HPO ⁶⁹ 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)

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 : ⁷⁵ 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	lissencephaly 2	9.4	LOC101927870 LOC105375435 RELN

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Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

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

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

³²

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

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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:

⁴¹

Temporal Lobe

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Publications for Epilepsy, Familial Temporal Lobe, 7

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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	1381.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	20301709 26046367
2	LOC101927870	Uncharacterized LOC101927870	RNA Gene	9.81	GeneCards inferred via : Variants (show sections)
3	LOC105375435	Uncharacterized LOC105375435	RNA Gene	9.3	GeneCards inferred via : Variants (show sections)

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Variations for Epilepsy, Familial Temporal Lobe, 7

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

⁷⁵

#	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

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

⁶ (show top 50) (show all 544)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RELN	NM_005045.3(RELN): c.1290-3dupT	duplication	Benign/Likely benign	rs146986040	GRCh37	Chromosome 7, 103301977: 103301977
2	RELN	NM_005045.3(RELN): c.1290-3dupT	duplication	Benign/Likely benign	rs146986040	GRCh38	Chromosome 7, 103661530: 103661530
3	RELN	NM_005045.3(RELN): c.139G> A (p.Glu47Lys)	single nucleotide variant	Uncertain significance	rs139648092	GRCh37	Chromosome 7, 103629665: 103629665
4	RELN	NM_005045.3(RELN): c.139G> A (p.Glu47Lys)	single nucleotide variant	Uncertain significance	rs139648092	GRCh38	Chromosome 7, 103989218: 103989218
5	RELN	NM_005045.3(RELN): c.1596G> A (p.Gln532=)	single nucleotide variant	Benign/Likely benign	rs41276154	GRCh37	Chromosome 7, 103293165: 103293165
6	RELN	NM_005045.3(RELN): c.1596G> A (p.Gln532=)	single nucleotide variant	Benign/Likely benign	rs41276154	GRCh38	Chromosome 7, 103652718: 103652718
7	RELN	NM_005045.3(RELN): c.1799C> T (p.Ser600Phe)	single nucleotide variant	Benign	rs78008536	GRCh37	Chromosome 7, 103292201: 103292201
8	RELN	NM_005045.3(RELN): c.1799C> T (p.Ser600Phe)	single nucleotide variant	Benign	rs78008536	GRCh38	Chromosome 7, 103651754: 103651754
9	RELN	NM_005045.3(RELN): c.2376T> C (p.Gly792=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs398124191	GRCh37	Chromosome 7, 103275961: 103275961
10	RELN	NM_005045.3(RELN): c.2376T> C (p.Gly792=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs398124191	GRCh38	Chromosome 7, 103635514: 103635514
11	RELN	NM_005045.3(RELN): c.26A> C (p.Gln9Pro)	single nucleotide variant	Benign/Likely benign	rs115165703	GRCh37	Chromosome 7, 103629778: 103629778
12	RELN	NM_005045.3(RELN): c.26A> C (p.Gln9Pro)	single nucleotide variant	Benign/Likely benign	rs115165703	GRCh38	Chromosome 7, 103989331: 103989331
13	RELN	NM_005045.3(RELN): c.3651C> G (p.Ile1217Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56342240	GRCh37	Chromosome 7, 103234828: 103234828
14	RELN	NM_005045.3(RELN): c.3651C> G (p.Ile1217Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56342240	GRCh38	Chromosome 7, 103594381: 103594381
15	RELN	NM_005045.3(RELN): c.3839G> A (p.Gly1280Glu)	single nucleotide variant	Benign/Likely benign	rs55689103	GRCh37	Chromosome 7, 103234202: 103234202
16	RELN	NM_005045.3(RELN): c.3839G> A (p.Gly1280Glu)	single nucleotide variant	Benign/Likely benign	rs55689103	GRCh38	Chromosome 7, 103593755: 103593755
17	RELN	NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser)	single nucleotide variant	Uncertain significance	rs115577014	GRCh37	Chromosome 7, 103214713: 103214713
18	RELN	NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser)	single nucleotide variant	Uncertain significance	rs115577014	GRCh38	Chromosome 7, 103574266: 103574266
19	RELN	NM_005045.3(RELN): c.474-7T> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs55693709	GRCh37	Chromosome 7, 103417081: 103417081
20	RELN	NM_005045.3(RELN): c.474-7T> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs55693709	GRCh38	Chromosome 7, 103776634: 103776634
21	RELN	NM_005045.3(RELN): c.5643G> A (p.Leu1881=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141387255	GRCh37	Chromosome 7, 103197578: 103197578
22	RELN	NM_005045.3(RELN): c.5643G> A (p.Leu1881=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141387255	GRCh38	Chromosome 7, 103557131: 103557131
23	RELN	NM_005045.3(RELN): c.5711C> T (p.Thr1904Met)	single nucleotide variant	Uncertain significance	rs114190729	GRCh37	Chromosome 7, 103197510: 103197510
24	RELN	NM_005045.3(RELN): c.5711C> T (p.Thr1904Met)	single nucleotide variant	Uncertain significance	rs114190729	GRCh38	Chromosome 7, 103557063: 103557063
25	RELN	NM_005045.3(RELN): c.6084C> T (p.Gly2028=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114019779	GRCh37	Chromosome 7, 103191732: 103191732
26	RELN	NM_005045.3(RELN): c.6084C> T (p.Gly2028=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114019779	GRCh38	Chromosome 7, 103551285: 103551285
27	RELN	NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln)	single nucleotide variant	Uncertain significance	rs200010849	GRCh37	Chromosome 7, 103183202: 103183202
28	RELN	NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln)	single nucleotide variant	Uncertain significance	rs200010849	GRCh38	Chromosome 7, 103542755: 103542755
29	RELN	NM_005045.3(RELN): c.7110T> C (p.Val2370=)	single nucleotide variant	Benign/Likely benign	rs362746	GRCh37	Chromosome 7, 103179595: 103179595
30	RELN	NM_005045.3(RELN): c.7110T> C (p.Val2370=)	single nucleotide variant	Benign/Likely benign	rs362746	GRCh38	Chromosome 7, 103539148: 103539148
31	RELN	NM_005045.3(RELN): c.7438G> A (p.Gly2480Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150236371	GRCh37	Chromosome 7, 103163890: 103163890
32	RELN	NM_005045.3(RELN): c.7438G> A (p.Gly2480Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150236371	GRCh38	Chromosome 7, 103523443: 103523443
33	RELN	NM_005045.3(RELN): c.8508C> T (p.Phe2836=)	single nucleotide variant	Benign/Likely benign	rs2229862	GRCh37	Chromosome 7, 103141351: 103141351
34	RELN	NM_005045.3(RELN): c.8508C> T (p.Phe2836=)	single nucleotide variant	Benign/Likely benign	rs2229862	GRCh38	Chromosome 7, 103500904: 103500904
35	RELN	NM_005045.3(RELN): c.9340A> G (p.Ile3114Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149613347	GRCh37	Chromosome 7, 103136199: 103136199
36	RELN	NM_005045.3(RELN): c.9340A> G (p.Ile3114Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149613347	GRCh38	Chromosome 7, 103495752: 103495752
37	RELN	NM_005045.3(RELN): c.9370-13_9370-8delATGTTT	deletion	Benign	rs141397961	GRCh37	Chromosome 7, 103132481: 103132486
38	RELN	NM_005045.3(RELN): c.9370-13_9370-8delATGTTT	deletion	Benign	rs141397961	GRCh38	Chromosome 7, 103492034: 103492039
39	RELN	NM_005045.3(RELN): c.9825C> T (p.Ser3275=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149713137	GRCh37	Chromosome 7, 103126802: 103126802
40	RELN	NM_005045.3(RELN): c.9825C> T (p.Ser3275=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149713137	GRCh38	Chromosome 7, 103486355: 103486355
41	RELN	NM_005045.3(RELN): c.1377G> A (p.Arg459=)	single nucleotide variant	Benign/Likely benign	rs73712207	GRCh37	Chromosome 7, 103301887: 103301887
42	RELN	NM_005045.3(RELN): c.1377G> A (p.Arg459=)	single nucleotide variant	Benign/Likely benign	rs73712207	GRCh38	Chromosome 7, 103661440: 103661440
43	RELN	NM_005045.3(RELN): c.1888A> C (p.Ser630Arg)	single nucleotide variant	Benign/Likely benign	rs115734214	GRCh37	Chromosome 7, 103292112: 103292112
44	RELN	NM_005045.3(RELN): c.1888A> C (p.Ser630Arg)	single nucleotide variant	Benign/Likely benign	rs115734214	GRCh38	Chromosome 7, 103651665: 103651665
45	RELN	NM_005045.3(RELN): c.2434C> G (p.His812Asp)	single nucleotide variant	Uncertain significance	rs3025968	GRCh37	Chromosome 7, 103275903: 103275903
46	RELN	NM_005045.3(RELN): c.2434C> G (p.His812Asp)	single nucleotide variant	Uncertain significance	rs3025968	GRCh38	Chromosome 7, 103635456: 103635456
47	RELN	NM_005045.3(RELN): c.2932A> G (p.Thr978Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3025962	GRCh37	Chromosome 7, 103251218: 103251218
48	RELN	NM_005045.3(RELN): c.2932A> G (p.Thr978Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3025962	GRCh38	Chromosome 7, 103610771: 103610771
49	RELN	NM_005045.3(RELN): c.416C> G (p.Thr139Ser)	single nucleotide variant	Benign/Likely benign	rs79471015	GRCh37	Chromosome 7, 103474041: 103474041
50	RELN	NM_005045.3(RELN): c.416C> G (p.Thr139Ser)	single nucleotide variant	Benign/Likely benign	rs79471015	GRCh38	Chromosome 7, 103833594: 103833594

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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

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GO Terms for Epilepsy, Familial Temporal Lobe, 7

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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:

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human 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

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

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

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

Expression for Epilepsy, Familial Temporal Lobe, 7

Pathways for Epilepsy, Familial Temporal Lobe, 7

GO Terms for Epilepsy, Familial Temporal Lobe, 7

Sources for Epilepsy, Familial Temporal Lobe, 7