ETL8
MCID: EPL152
MIFTS: 38

Epilepsy, Familial Temporal Lobe, 8 (ETL8)

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

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 8

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 8:

Name: Epilepsy, Familial Temporal Lobe, 8 57 72 29 6
Etl8 57 12 72
Familial Temporal Lobe Epilepsy 8 12 15
Epilepsy, Temporal Lobe, Familial, Type 8 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
favorable response to antiepileptic medication
onset in teenage years
a pair of monozygotic twins have been reported (last curated july 2015)


HPO:

31
epilepsy, familial temporal lobe, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060754
OMIM® 57 616461
OMIM Phenotypic Series 57 PS600512
MeSH 44 D004833
SNOMED-CT via HPO 68 263681008 4103001

Summaries for Epilepsy, Familial Temporal Lobe, 8

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 8, also known as etl8, is related to noonan syndrome-like disorder with loose anagen hair 2 and spinal cord oligodendroglioma. An important gene associated with Epilepsy, Familial Temporal Lobe, 8 is GAL (Galanin And GMAP Prepropeptide), and among its related pathways/superpathways are Angiopoietin Like Protein 8 Regulatory Pathway and Prolactin Signaling Pathway. Affiliated tissues include temporal lobe, and related phenotypes are focal impaired awareness seizure and cellular

UniProtKB/Swiss-Prot : 72 Epilepsy, familial temporal lobe, 8: 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.

More information from OMIM: 616461 PS600512

Related Diseases for Epilepsy, Familial Temporal Lobe, 8

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with loose anagen hair 2 10.2 SOS2 SOS1
2 spinal cord oligodendroglioma 10.1 RBFOX3 GFAP
3 traumatic brain injury 10.1 GFAP DRD2
4 subependymoma 10.0 TSC2 GFAP
5 hypertryptophanemia 10.0 RBFOX3 GFAP
6 anterior cerebral artery infarction 9.9 TH RBFOX3
7 gangliocytoma 9.9 TH RBFOX3 GFAP
8 multiple system atrophy 1 9.9 TH GFAP DRD2
9 intracranial vasospasm 9.8 NPY MTR
10 focal cortical dysplasia, type ii 9.8 TSC2 RBFOX3 GFAP
11 methylmalonic acidemia 9.8 TSC2 MTR CBL
12 central nervous system benign neoplasm 9.8 TSC2 RBFOX3 GFAP
13 status epilepticus 9.8 NPY GFAP GAL
14 phenylketonuria 9.8 TH MTR DRD2
15 gastroparesis 9.8 TH HMOX1 DRD2
16 rasopathy 9.8 TSC2 SOS2 SOS1 CBL
17 ganglioglioma 9.8 TSC2 TH GFAP
18 adjustment disorder 9.8 TH NPY GAL
19 articulation disorder 9.7 NPY GAD1 DRD2
20 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.7 TH GAD1
21 supranuclear palsy, progressive, 1 9.7 TH GFAP FUS DRD2
22 stuttering 9.7 NPY GAD1 DRD2
23 dementia, lewy body 9.7 TH GFAP FUS
24 movement disease 9.7 TH GAD1 FUS DRD2
25 subependymal giant cell astrocytoma 9.6 TSC2 NPY GFAP
26 ectodermal dysplasia 1, hypohidrotic, x-linked 9.6 TH RBFOX3 HMOX1 GFAP
27 toxic encephalopathy 9.6 TH RBFOX3 HMOX1 GFAP
28 panic disorder 9.6 NPY GAL GAD1 DRD2
29 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.6 TH RBFOX3 HMOX1 GFAP
30 tendinosis 9.6 TH NPY
31 hematuria, benign familial 9.6 TH NPY GAL GAD1
32 mood disorder 9.5 TH NPY GFAP DRD2
33 von hippel-lindau syndrome 9.4 TSC2 TH NPY
34 alcohol dependence 9.4 TH NPY GAD1 DRD2
35 anxiety 9.4 TH NPY GAL GAD1 DRD2
36 kagami-ogata syndrome 9.4 RBFOX3 NPY GFAP GAD1 DRD2
37 attention deficit-hyperactivity disorder 9.3 TH NPY NEUROD6 GAD1 DRD2
38 peripheral nervous system disease 9.2 TH RBFOX3 NPY HMOX1 GFAP
39 epilepsy 9.1 TSC2 RBFOX3 NPY GFAP GAL GAD1
40 specific developmental disorder 9.1 TSC2 TH RBFOX3 NPY DRD2
41 autism spectrum disorder 8.9 TSC2 NPY MTR GFAP GAD1 FUS
42 autism 8.8 TSC2 TH NPY MTR GFAP GAD1
43 retinitis pigmentosa 8.7 TH SHKBP1 RBFOX3 HMOX1 GFAP GAD1
44 disease of mental health 7.5 TSC2 TMTC1 TH RBFOX3 NPY NEUROD6

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 8:



Diseases related to Epilepsy, Familial Temporal Lobe, 8

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 8

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 8:

31
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 31 HP:0002384

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
complex partial seizures
temporal lobe epilepsy
secondary generalization
aura

Clinical features from OMIM®:

616461 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Epilepsy, Familial Temporal Lobe, 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 CBL COIL DRD2 GAD1 GAL GFAP
2 endocrine/exocrine gland MP:0005379 9.61 CBL DRD2 GAD1 GAL HMOX1 ITK
3 normal MP:0002873 9.23 DRD2 GAD1 GFAP NEUROD6 NPY SOS2

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 8

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 8

Genetic Tests for Epilepsy, Familial Temporal Lobe, 8

Genetic tests related to Epilepsy, Familial Temporal Lobe, 8:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Temporal Lobe, 8 29 GAL

Anatomical Context for Epilepsy, Familial Temporal Lobe, 8

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 8:

40
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 8

Articles related to Epilepsy, Familial Temporal Lobe, 8:

# Title Authors PMID Year
1
Galanin pathogenic mutations in temporal lobe epilepsy. 57 6
25691535 2015
2
Research on machine recognition of handprinted characters. 61
21869208 1984

Variations for Epilepsy, Familial Temporal Lobe, 8

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 8:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAL NM_015973.5(GAL):c.116C>A (p.Ala39Glu) SNV Pathogenic 372128 rs1057517661 GRCh37: 11:68453096-68453096
GRCh38: 11:68685628-68685628
2 GAL NM_015973.5(GAL):c.55T>C (p.Ser19Pro) SNV Uncertain significance 475916 rs746008445 GRCh37: 11:68452446-68452446
GRCh38: 11:68684978-68684978
3 GAL NM_015973.5(GAL):c.205G>A (p.Glu69Lys) SNV Uncertain significance 475911 rs571107777 GRCh37: 11:68455550-68455550
GRCh38: 11:68688082-68688082
4 GAL NM_015973.5(GAL):c.137-2A>G SNV Uncertain significance 578366 rs762777313 GRCh37: 11:68455480-68455480
GRCh38: 11:68688012-68688012
5 GAL NC_000011.10:g.(?_68684904)_(68691007_?)dup Duplication Uncertain significance 831647 GRCh37: 11:68452372-68458475
GRCh38:
6 GAL NM_015973.5(GAL):c.191G>A (p.Arg64Gln) SNV Uncertain significance 863573 GRCh37: 11:68455536-68455536
GRCh38: 11:68688068-68688068
7 GAL NM_015973.5(GAL):c.263G>A (p.Arg88His) SNV Uncertain significance 475912 rs778530092 GRCh37: 11:68456356-68456356
GRCh38: 11:68688888-68688888
8 GAL NM_015973.5(GAL):c.37C>T (p.Leu13Phe) SNV Uncertain significance 936741 GRCh37: 11:68452428-68452428
GRCh38: 11:68684960-68684960
9 GAL NM_015973.5(GAL):c.368C>T (p.Ser123Phe) SNV Uncertain significance 940511 GRCh37: 11:68458451-68458451
GRCh38: 11:68690983-68690983
10 GAL NM_015973.5(GAL):c.73_81+37del Deletion Uncertain significance 956705 GRCh37: 11:68452463-68452508
GRCh38: 11:68684995-68685040
11 GAL NM_015973.5(GAL):c.77C>T (p.Ser26Leu) SNV Uncertain significance 966590 GRCh37: 11:68452468-68452468
GRCh38: 11:68685000-68685000
12 GAL NM_015973.5(GAL):c.140C>T (p.Ala47Val) SNV Uncertain significance 542525 rs374472664 GRCh37: 11:68455485-68455485
GRCh38: 11:68688017-68688017
13 GAL NM_015973.5(GAL):c.166G>A (p.Asp56Asn) SNV Uncertain significance 644385 rs149894151 GRCh37: 11:68455511-68455511
GRCh38: 11:68688043-68688043
14 GAL NM_015973.5(GAL):c.178C>T (p.Leu60Phe) SNV Uncertain significance 571157 rs527905700 GRCh37: 11:68455523-68455523
GRCh38: 11:68688055-68688055
15 GAL NM_015973.3:c.82del Deletion Uncertain significance 642760 rs1594273885 GRCh37: 11:68453061-68453061
GRCh38: 11:68685593-68685593
16 GAL NM_015973.5(GAL):c.81+12G>A SNV Uncertain significance 931506 GRCh37: 11:68452484-68452484
GRCh38: 11:68685016-68685016
17 GAL NM_015973.5(GAL):c.199C>T (p.Arg67Trp) SNV Uncertain significance 542524 rs200075890 GRCh37: 11:68455544-68455544
GRCh38: 11:68688076-68688076
18 GAL NM_015973.5(GAL):c.43G>A (p.Ala15Thr) SNV Uncertain significance 574523 rs753843211 GRCh37: 11:68452434-68452434
GRCh38: 11:68684966-68684966
19 GAL NM_015973.5(GAL):c.28G>A (p.Ala10Thr) SNV Uncertain significance 838372 GRCh37: 11:68452419-68452419
GRCh38: 11:68684951-68684951
20 GAL NM_015973.5(GAL):c.16G>A (p.Ala6Thr) SNV Uncertain significance 850500 GRCh37: 11:68452407-68452407
GRCh38: 11:68684939-68684939
21 GAL NM_015973.5(GAL):c.365G>A (p.Arg122Gln) SNV Uncertain significance 951663 GRCh37: 11:68458448-68458448
GRCh38: 11:68690980-68690980
22 GAL NM_015973.5(GAL):c.91A>G (p.Lys31Glu) SNV Uncertain significance 999759 GRCh37: 11:68453071-68453071
GRCh38: 11:68685603-68685603
23 GAL NM_015973.5(GAL):c.335C>G (p.Pro112Arg) SNV Uncertain significance 837648 GRCh37: 11:68458418-68458418
GRCh38: 11:68690950-68690950
24 GAL NM_015973.5(GAL):c.223+3G>A SNV Uncertain significance 851157 GRCh37: 11:68455571-68455571
GRCh38: 11:68688103-68688103
25 GAL NM_015973.5(GAL):c.316G>A (p.Asp106Asn) SNV Uncertain significance 864078 GRCh37: 11:68458399-68458399
GRCh38: 11:68690931-68690931
26 GAL NM_015973.5(GAL):c.340G>A (p.Ala114Thr) SNV Uncertain significance 969501 GRCh37: 11:68458423-68458423
GRCh38: 11:68690955-68690955
27 GAL NM_015973.5(GAL):c.202C>T (p.Pro68Ser) SNV Uncertain significance 1018689 GRCh37: 11:68455547-68455547
GRCh38: 11:68688079-68688079
28 GAL NM_015973.5(GAL):c.337G>A (p.Ala113Thr) SNV Uncertain significance 1021546 GRCh37: 11:68458420-68458420
GRCh38: 11:68690952-68690952
29 GAL NM_015973.5(GAL):c.223+3G>C SNV Uncertain significance 1027299 GRCh37: 11:68455571-68455571
GRCh38: 11:68688103-68688103
30 GAL NM_015973.5(GAL):c.311C>T (p.Ala104Val) SNV Uncertain significance 851392 GRCh37: 11:68458394-68458394
GRCh38: 11:68690926-68690926
31 GAL NM_015973.5(GAL):c.7C>T (p.Arg3Ter) SNV Uncertain significance 1037453 GRCh37: 11:68452398-68452398
GRCh38: 11:68684930-68684930
32 GAL NM_015973.5(GAL):c.13A>G (p.Ser5Gly) SNV Uncertain significance 1037569 GRCh37: 11:68452404-68452404
GRCh38: 11:68684936-68684936
33 GAL NM_015973.5(GAL):c.200G>C (p.Arg67Pro) SNV Uncertain significance 1039520 GRCh37: 11:68455545-68455545
GRCh38: 11:68688077-68688077
34 GAL NM_015973.5(GAL):c.263G>T (p.Arg88Leu) SNV Uncertain significance 1043494 GRCh37: 11:68456356-68456356
GRCh38: 11:68688888-68688888
35 GAL NM_015973.5(GAL):c.142G>A (p.Val48Ile) SNV Likely benign 800277 rs541536020 GRCh37: 11:68455487-68455487
GRCh38: 11:68688019-68688019
36 GAL NM_015973.5(GAL):c.177C>G (p.Gly59=) SNV Likely benign 542528 rs533111349 GRCh37: 11:68455522-68455522
GRCh38: 11:68688054-68688054
37 GAL NM_015973.5(GAL):c.106C>T (p.Leu36=) SNV Likely benign 475910 rs528520052 GRCh37: 11:68453086-68453086
GRCh38: 11:68685618-68685618
38 GAL NM_015973.5(GAL):c.306C>T (p.Ala102=) SNV Likely benign 542526 rs147122838 GRCh37: 11:68458389-68458389
GRCh38: 11:68690921-68690921
39 GAL NM_015973.5(GAL):c.253A>G (p.Asn85Asp) SNV Likely benign 542527 rs145825008 GRCh37: 11:68456346-68456346
GRCh38: 11:68688878-68688878
40 GAL NM_015973.5(GAL):c.361G>A (p.Glu121Lys) SNV Benign 475913 rs139127322 GRCh37: 11:68458444-68458444
GRCh38: 11:68690976-68690976
41 GAL NM_015973.5(GAL):c.364C>T (p.Arg122Trp) SNV Benign 475914 rs36058701 GRCh37: 11:68458447-68458447
GRCh38: 11:68690979-68690979
42 GAL NM_015973.5(GAL):c.47C>T (p.Ala16Val) SNV Benign 475915 rs34725707 GRCh37: 11:68452438-68452438
GRCh38: 11:68684970-68684970

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 8:

72
# Symbol AA change Variation ID SNP ID
1 GAL p.Ala39Glu VAR_074671 rs105751766

Expression for Epilepsy, Familial Temporal Lobe, 8

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 8.

Pathways for Epilepsy, Familial Temporal Lobe, 8

Pathways related to Epilepsy, Familial Temporal Lobe, 8 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 TSC2 SOS2 SOS1 CBL
2
Show member pathways
12.16 TH SOS2 SOS1 CBL
3
Show member pathways
11.94 TSC2 SOS2 SOS1 CBL
4 11.89 TH RBFOX3 NPY GFAP GAD1
5 11.73 TSC2 SOS2 SOS1
6
Show member pathways
11.7 SOS1 ITK CBL
7
Show member pathways
11.66 SOS1 ITK CBL
8
Show member pathways
11.53 SOS2 SOS1 CBL
9 11.44 SOS2 SOS1 DRD2
10
Show member pathways
11.39 SOS2 SOS1 CBL
11 11.23 TH GFAP GAD1
12 10.64 SOS1 CBL
13 10.1 TH NPY DRD2

GO Terms for Epilepsy, Familial Temporal Lobe, 8

Cellular components related to Epilepsy, Familial Temporal Lobe, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.35 TH SOS1 RBFOX3 GAL FUS
2 perikaryon GO:0043204 8.92 TH RBFOX3 FUS DRD2

Biological processes related to Epilepsy, Familial Temporal Lobe, 8 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.72 TH HMOX1 GAL GAD1 DRD2
2 neurotransmitter biosynthetic process GO:0042136 9.52 TH GAD1
3 regulation of T cell proliferation GO:0042129 9.51 SOS2 SOS1
4 synaptic transmission, dopaminergic GO:0001963 9.49 TH DRD2
5 lymphocyte homeostasis GO:0002260 9.48 SOS2 SOS1
6 hyaloid vascular plexus regression GO:1990384 9.46 TH DRD2
7 positive regulation of small GTPase mediated signal transduction GO:0051057 9.43 SOS2 SOS1
8 regulation of T cell differentiation in thymus GO:0033081 9.4 SOS2 SOS1
9 regulation of pro-B cell differentiation GO:2000973 9.37 SOS2 SOS1
10 response to nicotine GO:0035094 9.33 TH HMOX1 DRD2
11 regulation of neurotransmitter uptake GO:0051580 9.26 GFAP DRD2
12 feeding behavior GO:0007631 9.13 NPY GAL DRD2
13 positive regulation of epidermal growth factor receptor signaling pathway GO:0045742 8.8 SOS1 SHKBP1 CBL

Molecular functions related to Epilepsy, Familial Temporal Lobe, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dopamine binding GO:0035240 8.62 TH DRD2

Sources for Epilepsy, Familial Temporal Lobe, 8

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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