ETL5
MCID: EPL081
MIFTS: 35

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 febrile seizures, familial, 11 and myoclonic epilepsy of infancy. 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 heart, and related phenotype is seizures.

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 all 42)
# Related Disease Score Top Affiliating Genes
1 febrile seizures, familial, 11 10.4 LOC102724708 CPA6
2 myoclonic epilepsy of infancy 10.3 SCN1A GABRG2
3 reflex epilepsy 10.2 SCN1A GABRG2
4 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1B SCN1A
5 landau-kleffner syndrome 10.2 SCN1A GABRG2
6 epileptic encephalopathy, early infantile, 13 10.2 SCN1B SCN1A
7 verbal auditory agnosia 10.1 SCN1B GABRG2
8 juvenile absence epilepsy 10.1 SCN1A GABRG2
9 photosensitive epilepsy 10.1 SCN1A GABRG2 GABRD
10 infancy electroclinical syndrome 10.0 SCN1B SCN1A
11 early onset absence epilepsy 10.0 SCN1B SCN1A GABRG2
12 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1B SCN1A GABRG2
13 epilepsy with generalized tonic-clonic seizures 10.0 SCN1B SCN1A GABRG2
14 benign neonatal seizures 10.0 SCN1B SCN1A GABRG2
15 benign familial infantile epilepsy 10.0 SCN1B SCN1A GABRG2
16 temporal lobe epilepsy 10.0 SCN1B SCN1A CPA6
17 febrile seizures, familial, 1 9.9 SCN9A ADGRV1
18 genetic epilepsy with febrile seizures plus 9.9 SCN9A SCN1A
19 unverricht-lundborg syndrome 9.9 SCN1B GABRG2
20 gastroenteritis 9.9 SCN1B SCN1A MDH2
21 electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
22 progressive familial heart block, type ia 9.8 SCN9A SCN1A
23 adolescence-adult electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
24 childhood electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
25 autosomal dominant nocturnal frontal lobe epilepsy 9.8 SCN1B SCN1A GABRG2 GABRD
26 early myoclonic encephalopathy 9.8 SCN1B SCN1A GABRG2 GABRD
27 childhood absence epilepsy 9.8 SCN1B SCN1A GABRG2 GABRD
28 scn1a seizure disorders 9.7 SCN9A SCN1B SCN1A
29 epilepsy, myoclonic juvenile 9.7 SCN1B SCN1A GABRG2 GABRD CPA6
30 focal epilepsy 9.7 SCN1B SCN1A GABRG2 GABRD CPA6
31 west syndrome 9.7 SCN1B SCN1A GABRG2
32 familial febrile seizures 9.6 SCN9A SCN1A GABRG2 ADGRV1
33 erythromelalgia 9.5 SCN9A SCN1A
34 neonatal period electroclinical syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
35 lennox-gastaut syndrome 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
36 epileptic encephalopathy, early infantile, 6 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
37 benign epilepsy with centrotemporal spikes 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
38 epilepsy, idiopathic generalized 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
39 early infantile epileptic encephalopathy 9.2 SCN9A SCN1B SCN1A GABRG2 GABRD
40 generalized epilepsy with febrile seizures plus 9.0 SCN9A SCN1B SCN1A GABRG2 GABRD ADGRV1
41 febrile seizures 8.9 SCN9A SCN1B SCN1A GABRG2 GABRD CPA6
42 epilepsy 8.5 SCN9A SCN1B SCN1A MAPT 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 seizures 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, Heart

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. 56 6
21922598 2012

Variations for Epilepsy, Familial Temporal Lobe, 5

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.544C>T (p.Arg182Ter)SNV Conflicting interpretations of pathogenicity 191226 rs773734224 8:68419114-68419114 8:67506879-67506879
3 CPA6 NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)SNV Conflicting interpretations of pathogenicity 281269 rs61738009 8:68396042-68396042 8:67483807-67483807
4 CPA6 NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)SNV Conflicting interpretations of pathogenicity 393467 rs35993949 8:68419039-68419039 8:67506804-67506804
5 CPA6 NM_020361.5(CPA6):c.759G>A (p.Trp253Ter)SNV Conflicting interpretations of pathogenicity 539979 rs139178030 8:68396082-68396082 8:67483847-67483847
6 CPA6 NM_020361.5(CPA6):c.994T>C (p.Tyr332His)SNV Uncertain significance 437415 rs1554662194 8:68346320-68346320 8:67434085-67434085
7 CPA6 NM_020361.5(CPA6):c.902C>T (p.Pro301Leu)SNV Uncertain significance 444757 rs753468111 8:68346412-68346412 8:67434177-67434177
8 CPA6 NM_020361.5(CPA6):c.534+4A>GSNV Uncertain significance 539978 rs766728291 8:68421748-68421748 8:67509513-67509513

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 11.89 SCN9A SCN1B SCN1A NF2 MAPT
2
Show member pathways
11.59 SCN9A SCN1B SCN1A
3
Show member pathways
11.21 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 cell projection GO:0042995 9.73 SCN9A SCN1B NF2 MAPT GABRG2 ADGRV1
2 neuron projection GO:0043005 9.67 NF2 MAPT GABRG2 GABRD
3 node of Ranvier GO:0033268 9.32 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 MAPT LDLRAP1 GABRG2

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 9.67 SCN1A SCN1B SCN9A
2 regulation of membrane potential GO:0042391 9.65 SCN1A GABRG2 GABRD
3 ion transport GO:0006811 9.63 SCN9A SCN1B SCN1A KCNJ4 GABRG2 GABRD
4 sodium ion transmembrane transport GO:0035725 9.58 SCN9A SCN1B SCN1A
5 neuronal action potential GO:0019228 9.51 SCN1A SCN9A
6 membrane depolarization during action potential GO:0086010 9.46 SCN9A SCN1A
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 neuronal action potential propagation GO:0019227 9.37 SCN1B SCN1A
10 internal protein amino acid acetylation GO:0006475 9.32 MDH2 MAPT
11 regulation of ion transmembrane transport GO:0034765 9.26 SCN9A SCN1B SCN1A KCNJ4
12 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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