ETL5
MCID: EPL081
MIFTS: 36

Epilepsy, Familial Temporal Lobe, 5 (ETL5)

Categories: 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 56 73 29 13 6 71
Etl5 56 12 73
Familial Temporal Lobe Epilepsy 5 12 15
Epilepsy, Temporal Lobe, Familial, Type 5 39

Characteristics:

OMIM:

56
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 56 614417
OMIM Phenotypic Series 56 PS600512
MeSH 43 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 temporal lobe epilepsy and visual epilepsy. An important gene associated with Epilepsy, Familial Temporal Lobe, 5 is CPA6 (Carboxypeptidase A6), and among its related pathways/superpathways are Neuroscience 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 58)
# Related Disease Score Top Affiliating Genes
1 temporal lobe epilepsy 30.0 SCN1B SCN1A CPA6
2 visual epilepsy 29.5 SCN1B SCN1A GABRG2
3 epilepsy 28.1 SCN9A SCN1B SCN1A GABRG2 GABRD CPA6
4 generalized epilepsy with febrile seizures plus, type 4 10.3 TBC1D22A GABRD
5 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
6 reflex epilepsy 10.2 SCN1A GABRG2
7 epileptic encephalopathy, early infantile, 13 10.2 SCN1B SCN1A
8 landau-kleffner syndrome 10.2 SCN1A GABRG2
9 juvenile absence epilepsy 10.1 SCN1A GABRG2
10 ataxia and polyneuropathy, adult-onset 10.0
11 seizure disorder 10.0
12 verbal auditory agnosia 10.0 SCN1B GABRG2 CPA6
13 early onset absence epilepsy 10.0 SCN1B SCN1A GABRG2
14 febrile seizures, familial, 2 10.0 SCN1B SCN1A GABRG2
15 generalized epilepsy with febrile seizures plus, type 1 10.0 SCN1B SCN1A GABRG2
16 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1B SCN1A GABRG2
17 infancy electroclinical syndrome 10.0 SCN1B SCN1A
18 benign familial neonatal epilepsy 10.0 SCN1B SCN1A GABRG2
19 photosensitive epilepsy 10.0 SCN1B SCN1A GABRG2
20 benign neonatal seizures 9.9 SCN1B SCN1A GABRG2
21 scn1a seizure disorders 9.9 SCN9A SCN1A
22 genetic epilepsy with febrile seizures plus 9.9 SCN9A SCN1A
23 sturge-weber syndrome 9.9 SCN1A NF2 GABRG2
24 episodic pain syndrome, familial, 2 9.9 SCN9A SCN1A
25 febrile seizures, familial, 6 9.8 TBC1D22A SCN1B SCN1A GABRG2
26 febrile seizures, familial, 5 9.8 TBC1D22A SCN1B SCN1A GABRG2
27 progressive familial heart block, type ia 9.8 SCN9A SCN1A
28 epilepsy with generalized tonic-clonic seizures 9.8 SCN1B SCN1A GABRG2 GABRD
29 adolescence-adult electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
30 childhood electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
31 migraine, familial hemiplegic, 3 9.8 SCN9A SCN1A
32 autosomal dominant nocturnal frontal lobe epilepsy 9.8 SCN1B SCN1A GABRG2 GABRD
33 early myoclonic encephalopathy 9.8 SCN1B SCN1A GABRG2 GABRD
34 trigeminal nerve disease 9.8 SCN9A SCN1A
35 childhood absence epilepsy 9.7 SCN1B SCN1A GABRG2 GABRD
36 west syndrome 9.7 SCN1B SCN1A GABRG2 GABRD
37 epilepsy, myoclonic juvenile 9.6 SCN1B SCN1A GABRG2 GABRD CPA6
38 paramyotonia congenita of von eulenburg 9.6 SCN9A SCN1B SCN1A
39 focal epilepsy 9.6 SCN1B SCN1A GABRG2 GABRD CPA6
40 paroxysmal extreme pain disorder 9.6 SCN9A SCN1B SCN1A
41 febrile seizures, familial, 11 9.6 TBC1D22A SCN1A LOC102724708 GABRG2 GABRD CPA6
42 febrile seizures, familial, 4 9.5 SCN1B SCN1A GABRG2 GABRD ADGRV1
43 erythromelalgia 9.4 SCN9A SCN1A
44 benign familial infantile epilepsy 9.4 SCN9A SCN1B SCN1A GABRG2
45 febrile seizures, familial, 8 9.3 TBC1D22A SCN1B SCN1A GABRG2 GABRD ADGRV1
46 neonatal period electroclinical syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
47 electroclinical syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
48 lennox-gastaut syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
49 epileptic encephalopathy, early infantile, 6 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
50 epilepsy, idiopathic generalized 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:

56
Neurologic Central Nervous System:
seizures, temporal lobe
structural changes in the temporal lobe

Clinical features from OMIM:

614417

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. 56 6
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. 6 56
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 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.809C>T (p.Ala270Val)SNV Conflicting interpretations of pathogenicity 30791 rs114402678 8:68396032-68396032 8:67483797-67483797
3 CPA6 NM_020361.5(CPA6):c.920C>T (p.Ala307Val)SNV Conflicting interpretations of pathogenicity 774243 8:68346394-68346394 8:67434159-67434159
4 CPA6 NM_020361.5(CPA6):c.759G>A (p.Trp253Ter)SNV Conflicting interpretations of pathogenicity 539979 rs139178030 8:68396082-68396082 8:67483847-67483847
5 CPA6 NM_020361.5(CPA6):c.544C>T (p.Arg182Ter)SNV Conflicting interpretations of pathogenicity 191226 rs773734224 8:68419114-68419114 8:67506879-67506879
6 CPA6 NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)SNV Conflicting interpretations of pathogenicity 281269 rs61738009 8:68396042-68396042 8:67483807-67483807
7 CPA6 NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)SNV Conflicting interpretations of pathogenicity 393467 rs35993949 8:68419039-68419039 8:67506804-67506804
8 CPA6 NM_020361.5(CPA6):c.932G>A (p.Arg311Gln)SNV Conflicting interpretations of pathogenicity 363605 rs143321447 8:68346382-68346382 8:67434147-67434147
9 CPA6 NM_020361.5(CPA6):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 363610 rs201643526 8:68421781-68421781 8:67509546-67509546
10 CPA6 NM_020361.5(CPA6):c.326T>C (p.Ile109Thr)SNV Uncertain significance 363611 rs151119622 8:68423882-68423882 8:67511647-67511647
11 CPA6 NM_020361.5(CPA6):c.318G>C (p.Lys106Asn)SNV Uncertain significance 363612 rs886063081 8:68423890-68423890 8:67511655-67511655
12 CPA6 NM_020361.4(CPA6):c.-247C>ASNV Uncertain significance 363620 rs530580560 8:68658611-68658611 8:67746376-67746376
13 CPA6 NM_020361.5(CPA6):c.791G>A (p.Arg264His)SNV Uncertain significance 363607 rs752555064 8:68396050-68396050 8:67483815-67483815
14 CPA6 NM_020361.5(CPA6):c.-45C>ASNV Uncertain significance 363616 rs767794744 8:68658409-68658409 8:67746174-67746174
15 CPA6 NM_020361.5(CPA6):c.715A>G (p.Asn239Asp)SNV Uncertain significance 363608 rs886063079 8:68396946-68396946 8:67484711-67484711
16 CPA6 NM_020361.5(CPA6):c.797G>T (p.Arg266Leu)SNV Uncertain significance 363606 rs140612122 8:68396044-68396044 8:67483809-67483809
17 CPA6 NM_020361.5(CPA6):c.538G>A (p.Gly180Ser)SNV Uncertain significance 363609 rs886063080 8:68419120-68419120 8:67506885-67506885
18 CPA6 NM_020361.5(CPA6):c.109T>C (p.Tyr37His)SNV Uncertain significance 363613 rs886063082 8:68658256-68658256 8:67746021-67746021
19 CPA6 NM_020361.5(CPA6):c.-76T>GSNV Uncertain significance 363617 rs886063083 8:68658440-68658440 8:67746205-67746205
20 CPA6 NM_020361.5(CPA6):c.*260A>CSNV Uncertain significance 363597 rs531558365 8:68334479-68334479 8:67422244-67422244
21 CPA6 NM_020361.5(CPA6):c.1126+13C>TSNV Uncertain significance 363602 rs768409721 8:68340269-68340269 8:67428034-67428034
22 CPA6 NM_020361.5(CPA6):c.383G>A (p.Arg128Gln)SNV Uncertain significance 197321 rs779117472 8:68423825-68423825 8:67511590-67511590
23 CPA6 NM_020361.5(CPA6):c.20G>A (p.Arg7His)SNV Uncertain significance 664501 8:68658345-68658345 8:67746110-67746110
24 CPA6 NM_020361.5(CPA6):c.581G>A (p.Gly194Asp)SNV Uncertain significance 286614 rs201589247 8:68419077-68419077 8:67506842-67506842
25 CPA6 NM_020361.5(CPA6):c.1288A>G (p.Met430Val)SNV Uncertain significance 363599 rs774898194 8:68334765-68334765 8:67422530-67422530
26 CPA6 NM_020361.5(CPA6):c.1021A>G (p.Ile341Val)SNV Uncertain significance 363604 rs766177388 8:68346293-68346293 8:67434058-67434058
27 CPA6 NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys)SNV Uncertain significance 363614 rs368736137 8:68658267-68658267 8:67746032-67746032
28 CPA6 NM_020361.5(CPA6):c.*286A>GSNV Uncertain significance 908371 8:68334453-68334453 8:67422218-67422218
29 CPA6 NM_020361.5(CPA6):c.*132C>TSNV Uncertain significance 909220 8:68334607-68334607 8:67422372-67422372
30 CPA6 NM_020361.5(CPA6):c.1246C>T (p.Pro416Ser)SNV Uncertain significance 909221 8:68334807-68334807 8:67422572-67422572
31 CPA6 NM_020361.5(CPA6):c.466C>T (p.His156Tyr)SNV Uncertain significance 911414 8:68421820-68421820 8:67509585-67509585
32 CPA6 NM_020361.5(CPA6):c.453T>C (p.His151=)SNV Uncertain significance 908438 8:68421833-68421833 8:67509598-67509598
33 CPA6 NM_020361.5(CPA6):c.140C>G (p.Pro47Arg)SNV Uncertain significance 908439 8:68536463-68536463 8:67624228-67624228
34 CPA6 NM_020361.5(CPA6):c.26G>A (p.Gly9Asp)SNV Uncertain significance 909286 8:68658339-68658339 8:67746104-67746104
35 CPA6 NM_020361.5(CPA6):c.-51C>ASNV Uncertain significance 909287 8:68658415-68658415 8:67746180-67746180
36 CPA6 NM_020361.5(CPA6):c.-87C>ASNV Uncertain significance 909288 8:68658451-68658451 8:67746216-67746216
37 CPA6 NM_020361.5(CPA6):c.-108G>ASNV Uncertain significance 909289 8:68658472-68658472 8:67746237-67746237
38 CPA6 NM_020361.5(CPA6):c.-191T>CSNV Uncertain significance 911282 8:68658555-68658555 8:67746320-67746320
39 CPA6 NM_020361.5(CPA6):c.-203C>TSNV Uncertain significance 911283 8:68658567-68658567 8:67746332-67746332
40 CPA6 NM_020361.5(CPA6):c.116+11C>ASNV Uncertain significance 908440 8:68658238-68658238 8:67746003-67746003
41 CPA6 NM_020361.5(CPA6):c.491C>T (p.Ser164Phe)SNV Uncertain significance 77390 rs267601975 8:68421795-68421795 8:67509560-67509560
42 CPA6 NM_020361.5(CPA6):c.994T>C (p.Tyr332His)SNV Uncertain significance 437415 rs1554662194 8:68346320-68346320 8:67434085-67434085
43 CPA6 NM_020361.5(CPA6):c.902C>T (p.Pro301Leu)SNV Uncertain significance 444757 rs753468111 8:68346412-68346412 8:67434177-67434177
44 CPA6 NM_020361.5(CPA6):c.1271C>T (p.Ala424Val)SNV Uncertain significance 472761 rs72654981 8:68334782-68334782 8:67422547-67422547
45 CPA6 NM_020361.5(CPA6):c.534+4A>GSNV Uncertain significance 539978 rs766728291 8:68421748-68421748 8:67509513-67509513
46 CPA6 NM_020361.5(CPA6):c.*328A>GSNV Likely benign 363596 rs3395 8:68334411-68334411 8:67422176-67422176
47 CPA6 NM_020361.5(CPA6):c.*242T>CSNV Likely benign 363598 rs527673781 8:68334497-68334497 8:67422262-67422262
48 CPA6 NM_020361.5(CPA6):c.975A>G (p.Ala325=)SNV Benign/Likely benign 284180 rs138313759 8:68346339-68346339 8:67434104-67434104
49 CPA6 NM_020361.5(CPA6):c.1077G>A (p.Gln359=)SNV Benign/Likely benign 363603 rs143536122 8:68340331-68340331 8:67428096-67428096
50 CPA6 NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)SNV Benign 128845 rs10957393 8:68536470-68536470 8:67624235-67624235

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

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

# Super pathways Score Top Affiliating Genes
1 11.99 SCN9A SCN1B SCN1A NF2
2
Show member pathways
11.59 SCN9A SCN1B SCN1A
3
Show member pathways
11.01 SCN9A SCN1B SCN1A
4 10.49 GABRG2 GABRD
5 10.28 SCN9A SCN1B SCN1A

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 neuron projection GO:0043005 9.67 SCN9A NF2 GABRG2 GABRD
2 GABA-A receptor complex GO:1902711 9.32 GABRG2 GABRD
3 node of Ranvier GO:0033268 9.26 SCN1B SCN1A
4 sodium channel complex GO:0034706 9.16 SCN1B SCN1A
5 voltage-gated sodium channel complex GO:0001518 9.13 SCN9A SCN1B SCN1A
6 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 11)
# 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 neuronal action potential GO:0019228 9.49 SCN9A SCN1A
5 membrane depolarization during action potential GO:0086010 9.46 SCN9A SCN1A
6 regulation of ion transmembrane transport GO:0034765 9.46 SCN9A SCN1B SCN1A KCNJ4
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 SCN1B SCN1A
8 nervous system process GO:0050877 9.43 GABRG2 GABRD ADGRV1
9 ion transport GO:0006811 9.43 SCN9A SCN1B SCN1A KCNJ4 GABRG2 GABRD
10 neuronal action potential propagation GO:0019227 9.32 SCN1B SCN1A
11 ion transmembrane transport GO:0034220 9.02 SCN9A 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 ion channel activity GO:0005216 9.56 SCN9A SCN1A GABRG2 GABRD
2 voltage-gated ion channel activity GO:0005244 9.46 SCN9A SCN1B SCN1A KCNJ4
3 GABA-A receptor activity GO:0004890 9.32 GABRG2 GABRD
4 sodium channel activity GO:0005272 9.13 SCN9A SCN1B SCN1A
5 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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