ETL5
MCID: EPL081
MIFTS: 37

Epilepsy, Familial Temporal Lobe, 5 (ETL5)

Categories: Ear diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 5

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 5:

Name: Epilepsy, Familial Temporal Lobe, 5 57 73 29 13 6 71
Etl5 57 12 73
Familial Temporal Lobe Epilepsy 5 12 15
Epilepsy, Temporal Lobe, Familial, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
autosomal recessive (in 1 patient)

Miscellaneous:
variable age of onset
four unrelated caucasian patients have been reported (as of march 2017)
one patient had compound heterozygous mutations


HPO:

31
epilepsy, familial temporal lobe, 5:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060752
OMIM® 57 614417
OMIM Phenotypic Series 57 PS600512
MeSH 44 D004833
MedGen 41 C3280730
UMLS 71 C3280730

Summaries for Epilepsy, Familial Temporal Lobe, 5

UniProtKB/Swiss-Prot : 73 Epilepsy, familial temporal lobe, 5: 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.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 5, also known as etl5, is related to seizure disorder and epilepsy. An important gene associated with Epilepsy, Familial Temporal Lobe, 5 is CPA6 (Carboxypeptidase A6), and among its related pathways/superpathways are Cardiac conduction and L1CAM interactions. Affiliated tissues include temporal lobe, and related phenotype is seizure.

Disease Ontology : 12 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.

More information from OMIM: 614417 PS600512

Related Diseases for Epilepsy, Familial Temporal Lobe, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 29.2 SCN1B SCN1A GABRG2 CPA6 ARFGEF1-DT
2 epilepsy 28.1 SCN9A SCN1B SCN1A GABRG2 GABRD CPA6
3 generalized epilepsy with febrile seizures plus, type 4 10.2 TBC1D22A GABRD
4 ataxia and polyneuropathy, adult-onset 10.1
5 temporal lobe epilepsy 10.1
6 genetic epilepsy with febrile seizures plus 10.1 SCN9A SCN1A
7 progressive familial heart block, type ia 10.1 SCN9A SCN1A
8 migraine, familial hemiplegic, 3 10.1 SCN9A SCN1A
9 trigeminal nerve disease 10.1 SCN9A SCN1A
10 myoclonic epilepsy of infancy 10.0 SCN1A GABRG2
11 reflex epilepsy 10.0 SCN1A GABRG2
12 trigeminal neuralgia 10.0 SCN9A SCN1A
13 landau-kleffner syndrome 10.0 SCN1A GABRG2
14 hyperkalemic periodic paralysis 10.0 SCN9A SCN1A
15 juvenile absence epilepsy 10.0 SCN1A GABRG2
16 autonomic nervous system disease 10.0 SCN9A SCN1A
17 developmental and epileptic encephalopathy 13 9.9 SCN1B SCN1A
18 sturge-weber syndrome 9.9 SCN1A GABRG2
19 infancy electroclinical syndrome 9.9 SCN1B SCN1A
20 erythromelalgia 9.9 SCN9A SCN1A
21 benign neonatal seizures 9.8 SCN1B SCN1A
22 long qt syndrome 3 9.8 SCN1B SCN1A
23 somatoform disorder 9.8 SCN9A SCN1A
24 focal epilepsy 9.7 SCN1A GABRG2 GABRD CPA6
25 verbal auditory agnosia 9.7 SCN1B GABRG2 CPA6
26 paroxysmal extreme pain disorder 9.7 SCN9A SCN1B SCN1A
27 paramyotonia congenita of von eulenburg 9.7 SCN9A SCN1B SCN1A
28 febrile seizures, familial, 2 9.6 SCN1B SCN1A GABRG2
29 early onset absence epilepsy 9.6 SCN1B SCN1A GABRG2
30 generalized epilepsy with febrile seizures plus, type 1 9.6 SCN1B SCN1A GABRG2
31 epilepsy, nocturnal frontal lobe, 1 9.6 SCN1B SCN1A GABRG2
32 photosensitive epilepsy 9.6 SCN1B SCN1A GABRG2
33 benign familial neonatal epilepsy 9.6 SCN1B SCN1A GABRG2
34 febrile seizures, familial, 6 9.5 TBC1D22A SCN1B SCN1A GABRG2
35 febrile seizures, familial, 5 9.5 TBC1D22A SCN1B SCN1A GABRG2
36 epilepsy, familial temporal lobe, 1 9.5 SCN1B GABRG2 ADGRV1
37 epilepsy with generalized tonic-clonic seizures 9.4 SCN1B SCN1A GABRG2 GABRD
38 adolescence-adult electroclinical syndrome 9.4 SCN1B SCN1A GABRG2 GABRD
39 childhood electroclinical syndrome 9.4 SCN1B SCN1A GABRG2 GABRD
40 autosomal dominant nocturnal frontal lobe epilepsy 9.4 SCN1B SCN1A GABRG2 GABRD
41 childhood absence epilepsy 9.4 SCN1B SCN1A GABRG2 GABRD
42 west syndrome 9.4 SCN1B SCN1A GABRG2 GABRD
43 unverricht-lundborg syndrome 9.4 SCN1B SCN1A GABRG2 ADGRV1
44 benign familial infantile epilepsy 9.4 SCN9A SCN1B SCN1A GABRG2
45 epilepsy, myoclonic juvenile 9.3 SCN1B SCN1A GABRG2 GABRD CPA6
46 febrile seizures, familial, 11 9.2 TBC1D22A SCN1A GABRG2 GABRD CPA6 ARFGEF1-DT
47 neonatal period electroclinical syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
48 electroclinical syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
49 lennox-gastaut syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
50 early myoclonic encephalopathy 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 5:



Diseases related to Epilepsy, Familial Temporal Lobe, 5

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 5

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 5:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures, temporal lobe
structural changes in the temporal lobe

Clinical features from OMIM®:

614417 (Updated 05-Mar-2021)

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 5

Genetic Tests for Epilepsy, Familial Temporal Lobe, 5

Genetic tests related to Epilepsy, Familial Temporal Lobe, 5:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Temporal Lobe, 5 29 CPA6

Anatomical Context for Epilepsy, Familial Temporal Lobe, 5

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 5:

40
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 5

Articles related to Epilepsy, Familial Temporal Lobe, 5:

# Title Authors PMID Year
1
Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. 6 57
23105115 2012
2
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. 57 6
21922598 2012
3
[Familial temporal lobe epilepsy 5 with vestibular seizures (a case report)]. 61
32207733 2019

Variations for Epilepsy, Familial Temporal Lobe, 5

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 5:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPA6 NM_020361.5(CPA6):c.587A>G (p.His196Arg) SNV Pathogenic 393468 rs376266840 8:68419071-68419071 8:67506836-67506836
2 CPA6 NM_020361.5(CPA6):c.-45C>A SNV Uncertain significance 363616 rs767794744 8:68658409-68658409 8:67746174-67746174
3 CPA6 NM_020361.5(CPA6):c.109T>C (p.Tyr37His) SNV Uncertain significance 363613 rs886063082 8:68658256-68658256 8:67746021-67746021
4 CPA6 NM_020361.5(CPA6):c.538G>A (p.Gly180Ser) SNV Uncertain significance 363609 rs886063080 8:68419120-68419120 8:67506885-67506885
5 CPA6 NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) SNV Uncertain significance 77390 rs267601975 8:68421795-68421795 8:67509560-67509560
6 CPA6 NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) SNV Uncertain significance 363612 rs886063081 8:68423890-68423890 8:67511655-67511655
7 CPA6 NM_020361.5(CPA6):c.-76T>G SNV Uncertain significance 363617 rs886063083 8:68658440-68658440 8:67746205-67746205
8 CPA6 NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) SNV Uncertain significance 363614 rs368736137 8:68658267-68658267 8:67746032-67746032
9 CPA6 NM_020361.5(CPA6):c.453T>C (p.His151=) SNV Uncertain significance 908438 8:68421833-68421833 8:67509598-67509598
10 CPA6 NM_020361.5(CPA6):c.140C>G (p.Pro47Arg) SNV Uncertain significance 908439 8:68536463-68536463 8:67624228-67624228
11 CPA6 NM_020361.5(CPA6):c.116+11C>A SNV Uncertain significance 908440 8:68658238-68658238 8:67746003-67746003
12 CPA6 NM_020361.5(CPA6):c.26G>A (p.Gly9Asp) SNV Uncertain significance 909286 8:68658339-68658339 8:67746104-67746104
13 CPA6 NM_020361.5(CPA6):c.-51C>A SNV Uncertain significance 909287 8:68658415-68658415 8:67746180-67746180
14 CPA6 NM_020361.5(CPA6):c.-87C>A SNV Uncertain significance 909288 8:68658451-68658451 8:67746216-67746216
15 CPA6 NM_020361.5(CPA6):c.-108G>A SNV Uncertain significance 909289 8:68658472-68658472 8:67746237-67746237
16 CPA6 NM_020361.5(CPA6):c.-191T>C SNV Uncertain significance 911282 8:68658555-68658555 8:67746320-67746320
17 CPA6 NM_020361.5(CPA6):c.-203C>T SNV Uncertain significance 911283 8:68658567-68658567 8:67746332-67746332
18 CPA6 NM_020361.5(CPA6):c.466C>T (p.His156Tyr) SNV Uncertain significance 911414 8:68421820-68421820 8:67509585-67509585
19 CPA6 NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) SNV Uncertain significance 191226 rs773734224 8:68419114-68419114 8:67506879-67506879
20 CPA6 NM_020361.4(CPA6):c.-247C>A SNV Uncertain significance 363620 rs530580560 8:68658611-68658611 8:67746376-67746376
21 ARFGEF1-DT NM_020361.5(CPA6):c.1288A>G (p.Met430Val) SNV Uncertain significance 363599 rs774898194 8:68334765-68334765 8:67422530-67422530
22 ARFGEF1-DT NM_020361.5(CPA6):c.1126+13C>T SNV Uncertain significance 363602 rs768409721 8:68340269-68340269 8:67428034-67428034
23 ARFGEF1-DT NM_020361.5(CPA6):c.*260A>C SNV Uncertain significance 363597 rs531558365 8:68334479-68334479 8:67422244-67422244
24 ARFGEF1-DT NM_020361.5(CPA6):c.994T>C (p.Tyr332His) SNV Uncertain significance 437415 rs1554662194 8:68346320-68346320 8:67434085-67434085
25 ARFGEF1-DT NM_020361.5(CPA6):c.*286A>G SNV Uncertain significance 908371 8:68334453-68334453 8:67422218-67422218
26 ARFGEF1-DT NM_020361.5(CPA6):c.*132C>T SNV Uncertain significance 909220 8:68334607-68334607 8:67422372-67422372
27 ARFGEF1-DT NM_020361.5(CPA6):c.1246C>T (p.Pro416Ser) SNV Uncertain significance 909221 8:68334807-68334807 8:67422572-67422572
28 ARFGEF1-DT NM_020361.5(CPA6):c.920C>T (p.Ala307Val) SNV Uncertain significance 774243 rs143107403 8:68346394-68346394 8:67434159-67434159
29 CPA6 NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) SNV Uncertain significance 197321 rs779117472 8:68423825-68423825 8:67511590-67511590
30 ARFGEF1-DT NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) SNV Uncertain significance 363606 rs140612122 8:68396044-68396044 8:67483809-67483809
31 ARFGEF1-DT NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) SNV Uncertain significance 363604 rs766177388 8:68346293-68346293 8:67434058-67434058
32 CPA6 NM_020361.5(CPA6):c.505T>C (p.Tyr169His) SNV Uncertain significance 363610 rs201643526 8:68421781-68421781 8:67509546-67509546
33 CPA6 NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) SNV Uncertain significance 363611 rs151119622 8:68423882-68423882 8:67511647-67511647
34 ARFGEF1-DT NM_020361.5(CPA6):c.715A>G (p.Asn239Asp) SNV Uncertain significance 363608 rs886063079 8:68396946-68396946 8:67484711-67484711
35 ARFGEF1-DT NM_020361.5(CPA6):c.791G>A (p.Arg264His) SNV Uncertain significance 363607 rs752555064 8:68396050-68396050 8:67483815-67483815
36 ARFGEF1-DT NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) SNV Uncertain significance 363605 rs143321447 8:68346382-68346382 8:67434147-67434147
37 ARFGEF1-DT NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) SNV Uncertain significance 444757 rs753468111 8:68346412-68346412 8:67434177-67434177
38 CPA6 NM_020361.5(CPA6):c.534+4A>G SNV Uncertain significance 539978 rs766728291 8:68421748-68421748 8:67509513-67509513
39 ARFGEF1-DT NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) SNV Uncertain significance 539979 rs139178030 8:68396082-68396082 8:67483847-67483847
40 ARFGEF1-DT NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) SNV Uncertain significance 472761 rs72654981 8:68334782-68334782 8:67422547-67422547
41 CPA6 NM_020361.5(CPA6):c.20G>A (p.Arg7His) SNV Uncertain significance 664501 rs373565150 8:68658345-68658345 8:67746110-67746110
42 ARFGEF1-DT NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) SNV Uncertain significance 444757 rs753468111 8:68346412-68346412 8:67434177-67434177
43 CPA6 NM_020361.5(CPA6):c.581G>A (p.Gly194Asp) SNV Uncertain significance 286614 rs201589247 8:68419077-68419077 8:67506842-67506842
44 ARFGEF1-DT NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) SNV Uncertain significance 281269 rs61738009 8:68396042-68396042 8:67483807-67483807
45 CPA6 NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) SNV Uncertain significance 393467 rs35993949 8:68419039-68419039 8:67506804-67506804
46 ARFGEF1-DT NM_020361.5(CPA6):c.809C>T (p.Ala270Val) SNV Likely benign 30791 rs114402678 8:68396032-68396032 8:67483797-67483797
47 ARFGEF1-DT NM_020361.5(CPA6):c.1077G>A (p.Gln359=) SNV Likely benign 363603 rs143536122 8:68340331-68340331 8:67428096-67428096
48 ARFGEF1-DT NM_020361.5(CPA6):c.*328A>G SNV Likely benign 363596 rs3395 8:68334411-68334411 8:67422176-67422176
49 ARFGEF1-DT NM_020361.5(CPA6):c.975A>G (p.Ala325=) SNV Likely benign 284180 rs138313759 8:68346339-68346339 8:67434104-67434104
50 ARFGEF1-DT NM_020361.5(CPA6):c.*242T>C SNV Likely benign 363598 rs527673781 8:68334497-68334497 8:67422262-67422262

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 5:

73
# Symbol AA change Variation ID SNP ID
1 CPA6 p.Gly267Arg VAR_066946 rs61738009

Expression for Epilepsy, Familial Temporal Lobe, 5

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 5.

Pathways for Epilepsy, Familial Temporal Lobe, 5

GO Terms for Epilepsy, Familial Temporal Lobe, 5

Cellular components related to Epilepsy, Familial Temporal Lobe, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.54 KCNJ4 GABRG2 GABRD
2 intercalated disc GO:0014704 9.43 SCN1B SCN1A
3 T-tubule GO:0030315 9.4 SCN1B SCN1A
4 GABA-A receptor complex GO:1902711 9.32 GABRG2 GABRD
5 node of Ranvier GO:0033268 9.26 SCN1B SCN1A
6 sodium channel complex GO:0034706 9.16 SCN1B SCN1A
7 voltage-gated sodium channel complex GO:0001518 9.13 SCN9A SCN1B SCN1A
8 axon GO:0030424 9.1 SCN9A SCN1B SCN1A LDLRAP1 GABRG2 GABRD

Biological processes related to Epilepsy, Familial Temporal Lobe, 5 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.65 SCN9A SCN1B SCN1A
2 regulation of membrane potential GO:0042391 9.58 SCN1A GABRG2 GABRD
3 sodium ion transmembrane transport GO:0035725 9.54 SCN9A SCN1B SCN1A
4 regulation of cilium assembly GO:1902017 9.51 TBC1D22A TBC1D1
5 neuronal action potential GO:0019228 9.49 SCN9A SCN1A
6 membrane depolarization during action potential GO:0086010 9.46 SCN9A SCN1A
7 regulation of ion transmembrane transport GO:0034765 9.46 SCN9A SCN1B SCN1A KCNJ4
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 SCN1B SCN1A
9 nervous system process GO:0050877 9.43 GABRG2 GABRD ADGRV1
10 ion transport GO:0006811 9.43 SCN9A SCN1B SCN1A KCNJ4 GABRG2 GABRD
11 neuronal action potential propagation GO:0019227 9.32 SCN1B SCN1A
12 ion transmembrane transport GO:0034220 9.1 SCN9A SCN1B SCN1A KCNJ4 GABRG2 GABRD

Molecular functions related to Epilepsy, Familial Temporal Lobe, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.61 GABRG2 GABRD ADGRV1
2 ion channel activity GO:0005216 9.56 SCN9A SCN1A GABRG2 GABRD
3 voltage-gated ion channel activity GO:0005244 9.46 SCN9A SCN1B SCN1A KCNJ4
4 extracellular ligand-gated ion channel activity GO:0005230 9.4 GABRG2 GABRD
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.37 GABRG2 GABRD
6 GABA-A receptor activity GO:0004890 9.32 GABRG2 GABRD
7 sodium channel activity GO:0005272 9.13 SCN9A SCN1B SCN1A
8 voltage-gated sodium channel activity GO:0005248 8.8 SCN9A SCN1B SCN1A

Sources for Epilepsy, Familial Temporal Lobe, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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