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

MCID: EPL150 MIFTS: 19	Epilepsy, Familial Temporal Lobe, 7 Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance

Classifications:

MalaCards categories:
Global: Genetic 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 auditory auras.

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 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	8.2	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	auditory auras 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	1381.33	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	26046367 20301709
2	LOC101927870	Uncharacterized LOC101927870	RNA Gene	9.69	GeneCards inferred via : Variants (show sections)
3	LOC105375435	Uncharacterized LOC105375435	RNA Gene	9.26	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 356)

#	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.6193G> A (p.Val2065Ile)	single nucleotide variant	Uncertain significance	rs201627577	GRCh37	Chromosome 7, 103191623: 103191623
4	RELN	NM_005045.3(RELN): c.6193G> A (p.Val2065Ile)	single nucleotide variant	Uncertain significance	rs201627577	GRCh38	Chromosome 7, 103551176: 103551176
5	RELN	NM_005045.3(RELN): c.4408G> A (p.Val1470Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143213152	GRCh37	Chromosome 7, 103214642: 103214642
6	RELN	NM_005045.3(RELN): c.4408G> A (p.Val1470Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143213152	GRCh38	Chromosome 7, 103574195: 103574195
7	RELN	NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn)	single nucleotide variant	Benign	rs148509350	GRCh37	Chromosome 7, 103138273: 103138273
8	RELN	NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn)	single nucleotide variant	Benign	rs148509350	GRCh38	Chromosome 7, 103497826: 103497826
9	RELN	NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41275239	GRCh37	Chromosome 7, 103197603: 103197603
10	RELN	NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41275239	GRCh38	Chromosome 7, 103557156: 103557156
11	RELN	NM_005045.3(RELN): c.8811G> A (p.Ala2937=)	single nucleotide variant	Benign/Likely benign	rs144728023	GRCh37	Chromosome 7, 103138556: 103138556
12	RELN	NM_005045.3(RELN): c.8811G> A (p.Ala2937=)	single nucleotide variant	Benign/Likely benign	rs144728023	GRCh38	Chromosome 7, 103498109: 103498109
13	RELN	NM_005045.3(RELN): c.5274G> T (p.Ala1758=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139102992	GRCh37	Chromosome 7, 103202337: 103202337
14	RELN	NM_005045.3(RELN): c.5274G> T (p.Ala1758=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139102992	GRCh38	Chromosome 7, 103561890: 103561890
15	RELN	NM_005045.3(RELN): c.77C> T (p.Ala26Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144557847	GRCh37	Chromosome 7, 103629727: 103629727
16	RELN	NM_005045.3(RELN): c.77C> T (p.Ala26Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144557847	GRCh38	Chromosome 7, 103989280: 103989280
17	RELN	NM_005045.3(RELN): c.906C> T (p.Ala302=)	single nucleotide variant	Benign/Likely benign	rs114494558	GRCh37	Chromosome 7, 103338537: 103338537
18	RELN	NM_005045.3(RELN): c.906C> T (p.Ala302=)	single nucleotide variant	Benign/Likely benign	rs114494558	GRCh38	Chromosome 7, 103698090: 103698090
19	RELN	NM_005045.3(RELN): c.1442-8T> C	single nucleotide variant	Benign/Likely benign	rs181761096	GRCh37	Chromosome 7, 103294660: 103294660
20	RELN	NM_005045.3(RELN): c.1442-8T> C	single nucleotide variant	Benign/Likely benign	rs181761096	GRCh38	Chromosome 7, 103654213: 103654213
21	RELN	NM_005045.3(RELN): c.1817C> T (p.Thr606Ile)	single nucleotide variant	Uncertain significance	rs540111252	GRCh37	Chromosome 7, 103292183: 103292183
22	RELN	NM_005045.3(RELN): c.1817C> T (p.Thr606Ile)	single nucleotide variant	Uncertain significance	rs540111252	GRCh38	Chromosome 7, 103651736: 103651736
23	RELN	NM_005045.3(RELN): c.2016G> A (p.Pro672=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146749232	GRCh37	Chromosome 7, 103281043: 103281043
24	RELN	NM_005045.3(RELN): c.2016G> A (p.Pro672=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146749232	GRCh38	Chromosome 7, 103640596: 103640596
25	RELN	NM_005045.3(RELN): c.2754A> G (p.Gln918=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114620008	GRCh37	Chromosome 7, 103252199: 103252199
26	RELN	NM_005045.3(RELN): c.2754A> G (p.Gln918=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114620008	GRCh38	Chromosome 7, 103611752: 103611752
27	RELN	NM_005045.3(RELN): c.3123C> T (p.Gly1041=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41276148	GRCh37	Chromosome 7, 103244816: 103244816
28	RELN	NM_005045.3(RELN): c.3123C> T (p.Gly1041=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41276148	GRCh38	Chromosome 7, 103604369: 103604369
29	RELN	NM_005045.3(RELN): c.5200C> G (p.Leu1734Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs362800	GRCh37	Chromosome 7, 103205735: 103205735
30	RELN	NM_005045.3(RELN): c.5200C> G (p.Leu1734Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs362800	GRCh38	Chromosome 7, 103565288: 103565288
31	RELN	NM_005045.3(RELN): c.6141C> T (p.Phe2047=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79161241	GRCh37	Chromosome 7, 103191675: 103191675
32	RELN	NM_005045.3(RELN): c.6141C> T (p.Phe2047=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79161241	GRCh38	Chromosome 7, 103551228: 103551228
33	RELN	NM_005045.3(RELN): c.6278A> C (p.His2093Pro)	single nucleotide variant	Uncertain significance	rs149152189	GRCh37	Chromosome 7, 103191538: 103191538
34	RELN	NM_005045.3(RELN): c.6278A> C (p.His2093Pro)	single nucleotide variant	Uncertain significance	rs149152189	GRCh38	Chromosome 7, 103551091: 103551091
35	RELN	NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys)	single nucleotide variant	Uncertain significance	rs146877597	GRCh37	Chromosome 7, 103185574: 103185574
36	RELN	NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys)	single nucleotide variant	Uncertain significance	rs146877597	GRCh38	Chromosome 7, 103545127: 103545127
37	RELN	NM_005045.3(RELN): c.6553A> T (p.Met2185Leu)	single nucleotide variant	Likely benign	rs114686696	GRCh37	Chromosome 7, 103183296: 103183296
38	RELN	NM_005045.3(RELN): c.6553A> T (p.Met2185Leu)	single nucleotide variant	Likely benign	rs114686696	GRCh38	Chromosome 7, 103542849: 103542849
39	RELN	NM_005045.3(RELN): c.8863C> T (p.Arg2955Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114501042	GRCh37	Chromosome 7, 103138354: 103138354
40	RELN	NM_005045.3(RELN): c.8863C> T (p.Arg2955Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114501042	GRCh38	Chromosome 7, 103497907: 103497907
41	RELN	NM_005045.3(RELN): c.9321C> T (p.Leu3107=)	single nucleotide variant	Benign	rs150387973	GRCh37	Chromosome 7, 103136218: 103136218
42	RELN	NM_005045.3(RELN): c.9321C> T (p.Leu3107=)	single nucleotide variant	Benign	rs150387973	GRCh38	Chromosome 7, 103495771: 103495771
43	RELN	NM_005045.3(RELN): c.9298_9300delAAG (p.Lys3100del)	deletion	Uncertain significance	rs762015967	GRCh37	Chromosome 7, 103136239: 103136241
44	RELN	NM_005045.3(RELN): c.9298_9300delAAG (p.Lys3100del)	deletion	Uncertain significance	rs762015967	GRCh38	Chromosome 7, 103495792: 103495794
45	RELN	NM_005045.3(RELN): c.9414C> T (p.Ser3138=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375427974	GRCh37	Chromosome 7, 103132429: 103132429
46	RELN	NM_005045.3(RELN): c.9414C> T (p.Ser3138=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375427974	GRCh38	Chromosome 7, 103491982: 103491982
47	RELN	NM_005045.3(RELN): c.2392C> A (p.His798Asn)	single nucleotide variant	Pathogenic	rs794727996	GRCh37	Chromosome 7, 103275945: 103275945
48	RELN	NM_005045.3(RELN): c.2392C> A (p.His798Asn)	single nucleotide variant	Pathogenic	rs794727996	GRCh38	Chromosome 7, 103635498: 103635498
49	RELN	NM_005045.3(RELN): c.8347G> T (p.Gly2783Cys)	single nucleotide variant	Pathogenic	rs794727997	GRCh37	Chromosome 7, 103143605: 103143605
50	RELN	NM_005045.3(RELN): c.8347G> T (p.Gly2783Cys)	single nucleotide variant	Pathogenic	rs794727997	GRCh38	Chromosome 7, 103503158: 103503158

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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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