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 ⁵⁸ ⁷⁶ ³⁰ ⁶

Etl7 ⁵⁸ ¹² ⁷⁶

Epilepsy, Temporal Lobe, Familial, Type 7 ⁴¹

Familial Temporal Lobe Epilepsy 7 ¹²

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance

HPO:

³³

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:

Disease Ontology ¹² DOID:0060751

OMIM ⁵⁸ 616436

MeSH ⁴⁵ D004833

MedGen ⁴³ C4225327 CN231326

SNOMED-CT via HPO ⁷⁰ 263681008

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Summaries for Epilepsy, Familial Temporal Lobe, 7

OMIM : ⁵⁸ 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 : ⁷⁶ 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	9.1	LOC101927870 LOC105375435 RELN

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Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

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

³³

#	Description	HPO Frequency	HPO Source Accession
1	focal sensory auditory seizure ³³		HP:0011158

Symptoms via clinical synopsis from OMIM:

⁵⁸

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 ³⁰	RELN

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Anatomical Context for Epilepsy, Familial Temporal Lobe, 7

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

⁴²

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	1381.65	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	20301709 26046367
2	LOC101927870	Uncharacterized LOC101927870	RNA Gene	9.87	GeneCards inferred via : Variants (show sections)
3	LOC105375435	Uncharacterized LOC105375435	RNA Gene	9.29	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:

⁷⁶

#	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.5923G> A (p.Gly1975Ser)	single nucleotide variant	Benign/Likely benign	rs114807343	GRCh37	Chromosome 7, 103194153: 103194153
2	RELN	NM_005045.3(RELN): c.5923G> A (p.Gly1975Ser)	single nucleotide variant	Benign/Likely benign	rs114807343	GRCh38	Chromosome 7, 103553706: 103553706
3	RELN	NM_005045.3(RELN): c.10016T> C (p.Met3339Thr)	single nucleotide variant	Uncertain significance	rs150638029	GRCh37	Chromosome 7, 103124265: 103124265
4	RELN	NM_005045.3(RELN): c.10016T> C (p.Met3339Thr)	single nucleotide variant	Uncertain significance	rs150638029	GRCh38	Chromosome 7, 103483818: 103483818
5	RELN	NM_005045.3(RELN): c.6193G> A (p.Val2065Ile)	single nucleotide variant	Uncertain significance	rs201627577	GRCh37	Chromosome 7, 103191623: 103191623
6	RELN	NM_005045.3(RELN): c.6193G> A (p.Val2065Ile)	single nucleotide variant	Uncertain significance	rs201627577	GRCh38	Chromosome 7, 103551176: 103551176
7	RELN	NM_005045.3(RELN): c.4408G> A (p.Val1470Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143213152	GRCh37	Chromosome 7, 103214642: 103214642
8	RELN	NM_005045.3(RELN): c.4408G> A (p.Val1470Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143213152	GRCh38	Chromosome 7, 103574195: 103574195
9	RELN	NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn)	single nucleotide variant	Benign	rs148509350	GRCh37	Chromosome 7, 103138273: 103138273
10	RELN	NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn)	single nucleotide variant	Benign	rs148509350	GRCh38	Chromosome 7, 103497826: 103497826
11	RELN	NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41275239	GRCh37	Chromosome 7, 103197603: 103197603
12	RELN	NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41275239	GRCh38	Chromosome 7, 103557156: 103557156
13	RELN	NM_005045.3(RELN): c.8811G> A (p.Ala2937=)	single nucleotide variant	Benign/Likely benign	rs144728023	GRCh37	Chromosome 7, 103138556: 103138556
14	RELN	NM_005045.3(RELN): c.8811G> A (p.Ala2937=)	single nucleotide variant	Benign/Likely benign	rs144728023	GRCh38	Chromosome 7, 103498109: 103498109
15	RELN	NM_005045.3(RELN): c.5274G> T (p.Ala1758=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139102992	GRCh37	Chromosome 7, 103202337: 103202337
16	RELN	NM_005045.3(RELN): c.5274G> T (p.Ala1758=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139102992	GRCh38	Chromosome 7, 103561890: 103561890
17	RELN	NM_005045.3(RELN): c.77C> T (p.Ala26Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144557847	GRCh37	Chromosome 7, 103629727: 103629727
18	RELN	NM_005045.3(RELN): c.77C> T (p.Ala26Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144557847	GRCh38	Chromosome 7, 103989280: 103989280
19	RELN	NM_005045.3(RELN): c.906C> T (p.Ala302=)	single nucleotide variant	Benign/Likely benign	rs114494558	GRCh37	Chromosome 7, 103338537: 103338537
20	RELN	NM_005045.3(RELN): c.906C> T (p.Ala302=)	single nucleotide variant	Benign/Likely benign	rs114494558	GRCh38	Chromosome 7, 103698090: 103698090
21	RELN	NM_005045.3(RELN): c.1442-8T> C	single nucleotide variant	Benign/Likely benign	rs181761096	GRCh37	Chromosome 7, 103294660: 103294660
22	RELN	NM_005045.3(RELN): c.1442-8T> C	single nucleotide variant	Benign/Likely benign	rs181761096	GRCh38	Chromosome 7, 103654213: 103654213
23	RELN	NM_005045.3(RELN): c.1817C> T (p.Thr606Ile)	single nucleotide variant	Uncertain significance	rs540111252	GRCh37	Chromosome 7, 103292183: 103292183
24	RELN	NM_005045.3(RELN): c.1817C> T (p.Thr606Ile)	single nucleotide variant	Uncertain significance	rs540111252	GRCh38	Chromosome 7, 103651736: 103651736
25	RELN	NM_005045.3(RELN): c.2016G> A (p.Pro672=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146749232	GRCh37	Chromosome 7, 103281043: 103281043
26	RELN	NM_005045.3(RELN): c.2016G> A (p.Pro672=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146749232	GRCh38	Chromosome 7, 103640596: 103640596
27	RELN	NM_005045.3(RELN): c.2754A> G (p.Gln918=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114620008	GRCh37	Chromosome 7, 103252199: 103252199
28	RELN	NM_005045.3(RELN): c.2754A> G (p.Gln918=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114620008	GRCh38	Chromosome 7, 103611752: 103611752
29	RELN	NM_005045.3(RELN): c.3123C> T (p.Gly1041=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41276148	GRCh37	Chromosome 7, 103244816: 103244816
30	RELN	NM_005045.3(RELN): c.3123C> T (p.Gly1041=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41276148	GRCh38	Chromosome 7, 103604369: 103604369
31	RELN	NM_005045.3(RELN): c.5200C> G (p.Leu1734Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs362800	GRCh37	Chromosome 7, 103205735: 103205735
32	RELN	NM_005045.3(RELN): c.5200C> G (p.Leu1734Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs362800	GRCh38	Chromosome 7, 103565288: 103565288
33	RELN	NM_005045.3(RELN): c.5344C> T (p.Arg1782Cys)	single nucleotide variant	Uncertain significance	rs138576725	GRCh37	Chromosome 7, 103202267: 103202267
34	RELN	NM_005045.3(RELN): c.5344C> T (p.Arg1782Cys)	single nucleotide variant	Uncertain significance	rs138576725	GRCh38	Chromosome 7, 103561820: 103561820
35	RELN	NM_005045.3(RELN): c.6141C> T (p.Phe2047=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79161241	GRCh37	Chromosome 7, 103191675: 103191675
36	RELN	NM_005045.3(RELN): c.6141C> T (p.Phe2047=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79161241	GRCh38	Chromosome 7, 103551228: 103551228
37	RELN	NM_005045.3(RELN): c.6278A> C (p.His2093Pro)	single nucleotide variant	Uncertain significance	rs149152189	GRCh37	Chromosome 7, 103191538: 103191538
38	RELN	NM_005045.3(RELN): c.6278A> C (p.His2093Pro)	single nucleotide variant	Uncertain significance	rs149152189	GRCh38	Chromosome 7, 103551091: 103551091
39	RELN	NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys)	single nucleotide variant	Uncertain significance	rs146877597	GRCh37	Chromosome 7, 103185574: 103185574
40	RELN	NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys)	single nucleotide variant	Uncertain significance	rs146877597	GRCh38	Chromosome 7, 103545127: 103545127
41	RELN	NM_005045.3(RELN): c.6553A> T (p.Met2185Leu)	single nucleotide variant	Likely benign	rs114686696	GRCh37	Chromosome 7, 103183296: 103183296
42	RELN	NM_005045.3(RELN): c.6553A> T (p.Met2185Leu)	single nucleotide variant	Likely benign	rs114686696	GRCh38	Chromosome 7, 103542849: 103542849
43	RELN	NM_005045.3(RELN): c.8863C> T (p.Arg2955Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114501042	GRCh37	Chromosome 7, 103138354: 103138354
44	RELN	NM_005045.3(RELN): c.8863C> T (p.Arg2955Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114501042	GRCh38	Chromosome 7, 103497907: 103497907
45	RELN	NM_005045.3(RELN): c.9321C> T (p.Leu3107=)	single nucleotide variant	Benign	rs150387973	GRCh37	Chromosome 7, 103136218: 103136218
46	RELN	NM_005045.3(RELN): c.9321C> T (p.Leu3107=)	single nucleotide variant	Benign	rs150387973	GRCh38	Chromosome 7, 103495771: 103495771
47	RELN	NM_005045.3(RELN): c.9298_9300delAAG (p.Lys3100del)	deletion	Uncertain significance	rs762015967	GRCh37	Chromosome 7, 103136239: 103136241
48	RELN	NM_005045.3(RELN): c.9298_9300delAAG (p.Lys3100del)	deletion	Uncertain significance	rs762015967	GRCh38	Chromosome 7, 103495792: 103495794
49	RELN	NM_005045.3(RELN): c.9414C> T (p.Ser3138=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375427974	GRCh37	Chromosome 7, 103132429: 103132429
50	RELN	NM_005045.3(RELN): c.9414C> T (p.Ser3138=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375427974	GRCh38	Chromosome 7, 103491982: 103491982

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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

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

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