FTLE
MCID: TMP005
MIFTS: 20

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 54 30 6 74
Epilepsy, Familial Temporal Lobe 54 13
Familial Temporal Lobe Epilepsy 54
Familial Epilepsy Temporal Lobe 38
Ftle 54

Classifications:



External Ids:

KEGG 38 H00809
UMLS 74 C1842564

Summaries for Temporal Epilepsy, Familial

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98819Disease definitionA rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.Visit the Orphanet disease page for more resources.

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 30

Anatomical Context for Temporal Epilepsy, Familial

MalaCards organs/tissues related to Temporal Epilepsy, Familial:

42
Temporal Lobe

Publications for Temporal Epilepsy, Familial

Articles related to Temporal Epilepsy, Familial:

(show all 13)
# 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
Familial temporal lobe epilepsy with auditory features. ( 16359474 )
2005
9
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. ( 15342703 )
2004
10
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. ( 14623726 )
2003
11
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. ( 12205652 )
2002
12
Familial temporal lobe epilepsy with febrile seizures. ( 12011300 )
2002
13
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.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.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 GRCh37 Chromosome 8, 68421795: 68421795
4 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 GRCh38 Chromosome 8, 67509560: 67509560
5 CPA6 NM_020361.4(CPA6): c.491C> T (p.Ser164Phe) single nucleotide variant Uncertain significance rs267601975 NCBI36 Chromosome 8, 68584349: 68584349
6 CPA6 NM_020361.4(CPA6): c.133T> C (p.Phe45Leu) single nucleotide variant Benign/Likely benign rs10957393 GRCh37 Chromosome 8, 68536470: 68536470
7 CPA6 NM_020361.4(CPA6): c.133T> C (p.Phe45Leu) single nucleotide variant Benign/Likely benign rs10957393 GRCh38 Chromosome 8, 67624235: 67624235
8 CPA6 NM_020361.4(CPA6): c.518C> G (p.Ser173Cys) single nucleotide variant Benign/Likely benign rs17853192 GRCh37 Chromosome 8, 68421768: 68421768
9 CPA6 NM_020361.4(CPA6): c.518C> G (p.Ser173Cys) single nucleotide variant Benign/Likely benign rs17853192 GRCh38 Chromosome 8, 67509533: 67509533
10 CPA6 NM_020361.4(CPA6): c.746A> G (p.Asn249Ser) single nucleotide variant Benign/Likely benign rs17343819 GRCh37 Chromosome 8, 68396915: 68396915
11 CPA6 NM_020361.4(CPA6): c.746A> G (p.Asn249Ser) single nucleotide variant Benign/Likely benign rs17343819 GRCh38 Chromosome 8, 67484680: 67484680
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.1127-15dupT duplication Uncertain significance rs60236534 GRCh38 Chromosome 8, 67422706: 67422706
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.1288A> G (p.Met430Val) single nucleotide variant Uncertain significance rs774898194 GRCh37 Chromosome 8, 68334765: 68334765
17 CPA6 NM_020361.4(CPA6): c.1127-15dupT duplication Uncertain significance rs60236534 GRCh37 Chromosome 8, 68334941: 68334941
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 GRCh38 Chromosome 8, 67422176: 67422176
25 CPA6 NM_020361.4(CPA6): c.*328A> G single nucleotide variant Likely benign rs3395 GRCh37 Chromosome 8, 68334411: 68334411
26 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh38 Chromosome 8, 67428034: 67428034
27 CPA6 NM_020361.4(CPA6): c.1126+13C> T single nucleotide variant Uncertain significance rs768409721 GRCh37 Chromosome 8, 68340269: 68340269
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 GRCh38 Chromosome 8, 67422244: 67422244
41 CPA6 NM_020361.4(CPA6): c.*260A> C single nucleotide variant Uncertain significance rs531558365 GRCh37 Chromosome 8, 68334479: 68334479
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 GRCh38 Chromosome 8, 67422262: 67422262

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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75 UMLS via Orphanet
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