MCID: TMP005
MIFTS: 18

Temporal Epilepsy, Familial

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Temporal Epilepsy, Familial

MalaCards integrated aliases for Temporal Epilepsy, Familial:

Name: Temporal Epilepsy, Familial 53 29 6 73
Epilepsy, Familial Temporal Lobe 53 13
Familial Temporal Lobe Epilepsy 53
Familial Epilepsy Temporal Lobe 37
Ftle 53

Classifications:



External Ids:

KEGG 37 H00809
UMLS 73 C1842564

Summaries for Temporal Epilepsy, Familial

MalaCards based summary : Temporal Epilepsy, Familial, also known as epilepsy, familial temporal lobe, is related to epilepsy, familial temporal lobe, 5 and epilepsy, familial temporal lobe, 7. An important gene associated with Temporal Epilepsy, Familial is ETL6 (Epilepsy, Familial Temporal Lobe, 6). Affiliated tissues include temporal lobe.

Related Diseases for Temporal Epilepsy, Familial

Diseases related to Temporal Epilepsy, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 5 33.6 CPA6 LOC102724708
2 epilepsy, familial temporal lobe, 7 12.6
3 epilepsy, familial temporal lobe, 1 12.5
4 epilepsy, familial temporal lobe, 8 12.5
5 epilepsy, familial temporal lobe, 4 12.3
6 epilepsy, familial temporal lobe, 6 12.3
7 epilepsy, familial temporal lobe, 2 11.1
8 febrile seizures, familial, 11 9.6 CPA6 LOC102724708

Graphical network of the top 20 diseases related to Temporal Epilepsy, Familial:



Diseases related to Temporal Epilepsy, Familial

Symptoms & Phenotypes for Temporal Epilepsy, Familial

Drugs & Therapeutics for Temporal Epilepsy, Familial

Search Clinical Trials , NIH Clinical Center for Temporal Epilepsy, Familial

Genetic Tests for Temporal Epilepsy, Familial

Genetic tests related to Temporal Epilepsy, Familial:

# Genetic test Affiliating Genes
1 Temporal Epilepsy, Familial 29

Anatomical Context for Temporal Epilepsy, Familial

MalaCards organs/tissues related to Temporal Epilepsy, Familial:

41
Temporal Lobe

Publications for Temporal Epilepsy, Familial

Articles related to Temporal Epilepsy, Familial:

# Title Authors Year
1
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. ( 26216793 )
2015
2
A new locus for familial temporal lobe epilepsy on chromosome 3q. ( 24021842 )
2013
3
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. ( 21444903 )
2011
4
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
5
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. ( 15342703 )
2004
6
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. ( 14623726 )
2003
7
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. ( 12205652 )
2002
8
Familial temporal lobe epilepsy with febrile seizures. ( 12011300 )
2002

Variations for Temporal Epilepsy, Familial

ClinVar genetic disease variations for Temporal Epilepsy, Familial:

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh37 Chromosome 8, 68423825: 68423825
2 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh38 Chromosome 8, 67511590: 67511590
3 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh37 Chromosome 8, 68346339: 68346339
4 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh38 Chromosome 8, 67434104: 67434104
5 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh37 Chromosome 8, 68334765: 68334765
6 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh38 Chromosome 8, 67422530: 67422530
7 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs763760847 GRCh37 Chromosome 8, 68334941: 68334941
8 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs763760847 GRCh38 Chromosome 8, 67422706: 67422706
9 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh37 Chromosome 8, 68346293: 68346293
10 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh38 Chromosome 8, 67434058: 67434058
11 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh37 Chromosome 8, 68658267: 68658267
12 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh38 Chromosome 8, 67746032: 67746032
13 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh38 Chromosome 8, 67746349: 67746351
14 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh37 Chromosome 8, 68658584: 68658586
15 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh38 Chromosome 8, 67422176: 67422176
16 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh37 Chromosome 8, 68334411: 68334411
17 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh37 Chromosome 8, 68340269: 68340269
18 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh38 Chromosome 8, 67428034: 67428034
19 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh37 Chromosome 8, 68346382: 68346382
20 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh38 Chromosome 8, 67434147: 67434147
21 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh37 Chromosome 8, 68396044: 68396044
22 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh38 Chromosome 8, 67483809: 67483809
23 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh37 Chromosome 8, 68419120: 68419120
24 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh38 Chromosome 8, 67506885: 67506885
25 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh37 Chromosome 8, 68658256: 68658256
26 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh38 Chromosome 8, 67746021: 67746021
27 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh37 Chromosome 8, 68658374: 68658375
28 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh38 Chromosome 8, 67746139: 67746140
29 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh37 Chromosome 8, 68658440: 68658440
30 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh38 Chromosome 8, 67746205: 67746205
31 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh37 Chromosome 8, 68334479: 68334479
32 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh38 Chromosome 8, 67422244: 67422244
33 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh37 Chromosome 8, 68340331: 68340331
34 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh38 Chromosome 8, 67428096: 67428096
35 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh37 Chromosome 8, 68396050: 68396050
36 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh38 Chromosome 8, 67483815: 67483815
37 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh37 Chromosome 8, 68658409: 68658409
38 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh38 Chromosome 8, 67746174: 67746174
39 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh37 Chromosome 8, 68658524: 68658524
40 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh38 Chromosome 8, 67746289: 67746289
41 CPA6 NM_020361.4(CPA6): c.*242T> C single nucleotide variant Uncertain significance rs527673781 GRCh37 Chromosome 8, 68334497: 68334497
42 CPA6 NM_020361.4(CPA6): c.*242T> C single nucleotide variant Uncertain significance rs527673781 GRCh38 Chromosome 8, 67422262: 67422262
43 CPA6 NM_020361.4(CPA6): c.1127-16_1127-15dupTT duplication Uncertain significance rs763760847 GRCh37 Chromosome 8, 68334941: 68334942
44 CPA6 NM_020361.4(CPA6): c.1127-16_1127-15dupTT duplication Uncertain significance rs763760847 GRCh38 Chromosome 8, 67422706: 67422707
45 CPA6 NM_020361.4(CPA6): c.715A> G (p.Asn239Asp) single nucleotide variant Uncertain significance rs886063079 GRCh37 Chromosome 8, 68396946: 68396946
46 CPA6 NM_020361.4(CPA6): c.715A> G (p.Asn239Asp) single nucleotide variant Uncertain significance rs886063079 GRCh38 Chromosome 8, 67484711: 67484711
47 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh37 Chromosome 8, 68421781: 68421781
48 CPA6 NM_020361.4(CPA6): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs201643526 GRCh38 Chromosome 8, 67509546: 67509546
49 CPA6 NM_020361.4(CPA6): c.326T> C (p.Ile109Thr) single nucleotide variant Uncertain significance rs151119622 GRCh37 Chromosome 8, 68423882: 68423882
50 CPA6 NM_020361.4(CPA6): c.326T> C (p.Ile109Thr) single nucleotide variant Uncertain significance rs151119622 GRCh38 Chromosome 8, 67511647: 67511647

Expression for Temporal Epilepsy, Familial

Search GEO for disease gene expression data for Temporal Epilepsy, Familial.

Pathways for Temporal Epilepsy, Familial

GO Terms for Temporal Epilepsy, Familial

Sources for Temporal Epilepsy, Familial

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