FTLE
MCID: TMP005
MIFTS: 19

Temporal Epilepsy, Familial (FTLE)

Categories: Genetic diseases, Rare 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

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:

(show all 12)
# Title Authors Year
1
A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy. ( 30284771 )
2018
2
Familial temporal lobe epilepsy in the 19th century. ( 29172094 )
2018
3
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. ( 26216793 )
2015
4
Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa. ( 26362388 )
2015
5
A new locus for familial temporal lobe epilepsy on chromosome 3q. ( 24021842 )
2013
6
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. ( 21444903 )
2011
7
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
8
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. ( 15342703 )
2004
9
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. ( 14623726 )
2003
10
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. ( 12205652 )
2002
11
Familial temporal lobe epilepsy with febrile seizures. ( 12011300 )
2002
12
Idiopathic familial temporal lobe epilepsy with febrile convulsions. ( 11888255 )
2002

Variations for Temporal Epilepsy, Familial

ClinVar genetic disease variations for Temporal Epilepsy, Familial:

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 GRCh37 Chromosome 8, 68421795: 68421795
2 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 GRCh38 Chromosome 8, 67509560: 67509560
3 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 NCBI36 Chromosome 8, 68584349: 68584349
4 CPA6 NM_020361.4(CPA6): c.133T> C (p.Phe45Leu) single nucleotide variant Benign/Likely benign rs10957393 GRCh37 Chromosome 8, 68536470: 68536470
5 CPA6 NM_020361.4(CPA6): c.133T> C (p.Phe45Leu) single nucleotide variant Benign/Likely benign rs10957393 GRCh38 Chromosome 8, 67624235: 67624235
6 CPA6 NM_020361.4(CPA6): c.518C> G (p.Ser173Cys) single nucleotide variant Benign/Likely benign rs17853192 GRCh37 Chromosome 8, 68421768: 68421768
7 CPA6 NM_020361.4(CPA6): c.518C> G (p.Ser173Cys) single nucleotide variant Benign/Likely benign rs17853192 GRCh38 Chromosome 8, 67509533: 67509533
8 CPA6 NM_020361.4(CPA6): c.746A> G (p.Asn249Ser) single nucleotide variant Benign/Likely benign rs17343819 GRCh37 Chromosome 8, 68396915: 68396915
9 CPA6 NM_020361.4(CPA6): c.746A> G (p.Asn249Ser) single nucleotide variant Benign/Likely benign rs17343819 GRCh38 Chromosome 8, 67484680: 67484680
10 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh37 Chromosome 8, 68423825: 68423825
11 CPA6 NM_020361.4(CPA6): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs779117472 GRCh38 Chromosome 8, 67511590: 67511590
12 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh37 Chromosome 8, 68346339: 68346339
13 CPA6 NM_020361.4(CPA6): c.975A> G (p.Ala325=) single nucleotide variant Conflicting interpretations of pathogenicity rs138313759 GRCh38 Chromosome 8, 67434104: 67434104
14 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh37 Chromosome 8, 68334765: 68334765
15 CPA6 NM_020361.4(CPA6): c.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh38 Chromosome 8, 67422530: 67422530
16 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs763760847 GRCh37 Chromosome 8, 68334941: 68334941
17 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs763760847 GRCh38 Chromosome 8, 67422706: 67422706
18 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh37 Chromosome 8, 68346293: 68346293
19 CPA6 NM_020361.4(CPA6): c.1021A> G (p.Ile341Val) single nucleotide variant Uncertain significance rs766177388 GRCh38 Chromosome 8, 67434058: 67434058
20 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh37 Chromosome 8, 68658267: 68658267
21 CPA6 NM_020361.4(CPA6): c.98A> G (p.Tyr33Cys) single nucleotide variant Uncertain significance rs368736137 GRCh38 Chromosome 8, 67746032: 67746032
22 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh37 Chromosome 8, 68658584: 68658586
23 CPA6 NM_020361.4(CPA6): c.-222_-220delGCT deletion Uncertain significance rs144013159 GRCh38 Chromosome 8, 67746349: 67746351
24 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh37 Chromosome 8, 68334411: 68334411
25 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh38 Chromosome 8, 67422176: 67422176
26 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh37 Chromosome 8, 68340269: 68340269
27 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh38 Chromosome 8, 67428034: 67428034
28 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh37 Chromosome 8, 68346382: 68346382
29 CPA6 NM_020361.4(CPA6): c.932G> A (p.Arg311Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143321447 GRCh38 Chromosome 8, 67434147: 67434147
30 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh37 Chromosome 8, 68396044: 68396044
31 CPA6 NM_020361.4(CPA6): c.797G> T (p.Arg266Leu) single nucleotide variant Uncertain significance rs140612122 GRCh38 Chromosome 8, 67483809: 67483809
32 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh37 Chromosome 8, 68419120: 68419120
33 CPA6 NM_020361.4(CPA6): c.538G> A (p.Gly180Ser) single nucleotide variant Uncertain significance rs886063080 GRCh38 Chromosome 8, 67506885: 67506885
34 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh37 Chromosome 8, 68658256: 68658256
35 CPA6 NM_020361.4(CPA6): c.109T> C (p.Tyr37His) single nucleotide variant Uncertain significance rs886063082 GRCh38 Chromosome 8, 67746021: 67746021
36 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh37 Chromosome 8, 68658374: 68658375
37 CPA6 NM_020361.4(CPA6): c.-11_-10delTT deletion Uncertain significance rs531326049 GRCh38 Chromosome 8, 67746139: 67746140
38 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh37 Chromosome 8, 68658440: 68658440
39 CPA6 NM_020361.4(CPA6): c.-76T> G single nucleotide variant Uncertain significance rs886063083 GRCh38 Chromosome 8, 67746205: 67746205
40 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh37 Chromosome 8, 68334479: 68334479
41 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh38 Chromosome 8, 67422244: 67422244
42 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh37 Chromosome 8, 68340331: 68340331
43 CPA6 NM_020361.4(CPA6): c.1077G> A (p.Gln359=) single nucleotide variant Conflicting interpretations of pathogenicity rs143536122 GRCh38 Chromosome 8, 67428096: 67428096
44 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh37 Chromosome 8, 68396050: 68396050
45 CPA6 NM_020361.4(CPA6): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs752555064 GRCh38 Chromosome 8, 67483815: 67483815
46 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh37 Chromosome 8, 68658409: 68658409
47 CPA6 NM_020361.4(CPA6): c.-45C> A single nucleotide variant Uncertain significance rs767794744 GRCh38 Chromosome 8, 67746174: 67746174
48 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh37 Chromosome 8, 68658524: 68658524
49 CPA6 NM_020361.4(CPA6): c.-160delT deletion Uncertain significance rs796925267 GRCh38 Chromosome 8, 67746289: 67746289
50 CPA6 NM_020361.4(CPA6): c.*242T> C single nucleotide variant Uncertain significance rs527673781 GRCh37 Chromosome 8, 68334497: 68334497

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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