ETL2
MCID: EPL115
MIFTS: 31

Epilepsy, Familial Temporal Lobe, 2 (ETL2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 2

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 2:

Name: Epilepsy, Familial Temporal Lobe, 2 56 13
Familial Temporal Lobe Epilepsy 2 12 6 15
Etl2 56 12
Familial Temporal Lobe Epilepsy 58
Temporal Epilepsy, Familial 71
Ftle 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
reduced penetrance
onset in childhood or early adulthood


HPO:

31
epilepsy, familial temporal lobe, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course onset incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060755
OMIM 56 608096
OMIM Phenotypic Series 56 PS600512
MESH via Orphanet 44 C536956
ICD10 via Orphanet 33 G40.2
UMLS via Orphanet 72 C1842564
Orphanet 58 ORPHA98819
MedGen 41 C4759869
UMLS 71 C1842564

Summaries for Epilepsy, Familial Temporal Lobe, 2

OMIM : 56 Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras (Berkovic et al., 1996). For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512). (608096)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 2, also known as familial temporal lobe epilepsy 2, is related to epilepsy, familial temporal lobe, 7 and epilepsy, familial temporal lobe, 1. An important gene associated with Epilepsy, Familial Temporal Lobe, 2 is ETL2 (Epilepsy, Familial Temporal Lobe). Affiliated tissues include temporal lobe and skin, and related phenotypes are generalized tonic-clonic seizures and focal impaired awareness seizure

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.

Related Diseases for Epilepsy, Familial Temporal Lobe, 2

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 2:



Diseases related to Epilepsy, Familial Temporal Lobe, 2

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 2

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 2:

31
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 HP:0002069
2 focal impaired awareness seizure 31 HP:0002384
3 febrile seizures 31 HP:0002373
4 status epilepticus 31 HP:0002133
5 focal aware seizure 31 HP:0002349

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
generalized tonic-clonic seizures
complex partial seizures
simple partial seizures
febrile seizures (usually remit by age 6 years)
status epilepticus rarely occurs
more

Clinical features from OMIM:

608096

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 2

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 2

Genetic Tests for Epilepsy, Familial Temporal Lobe, 2

Anatomical Context for Epilepsy, Familial Temporal Lobe, 2

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 2:

40
Temporal Lobe, Skin

Publications for Epilepsy, Familial Temporal Lobe, 2

Articles related to Epilepsy, Familial Temporal Lobe, 2:

(show all 16)
# Title Authors PMID Year
1
Dysfunction of GABAA receptor glycolysis-dependent modulation in human partial epilepsy. 56
17360668 2007
2
Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3. 56
16972079 2007
3
Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of patients with mesial temporal lobe epilepsy. 56
15592755 2004
4
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. 56
15342703 2004
5
Acquired dendritic channelopathy in temporal lobe epilepsy. 56
15273397 2004
6
Death-associated protein kinase expression in human temporal lobe epilepsy. 56
15048887 2004
7
Familial temporal lobe epilepsy with febrile seizures. 56
12011300 2002
8
Clinical and genetic heterogeneity in familial temporal lobe epilepsy. 56
12121308 2002
9
Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy. 56
10642040 2000
10
Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. 56
9484399 1998
11
Familial temporal lobe epilepsy: a common disorder identified in twins. 56
8773604 1996
12
Genes for epilepsy mapped in the mouse. 56
1871601 1991
13
Synthesis, magnetic properties, and phosphoesterase activity of dinuclear cobalt(II) complexes. 61
23374019 2013
14
Isolation and partial characterization of N-acetyl-D-galactosamine-binding lectins from Epiphragmophora trenquelleonis snail. 61
8882733 1996
15
Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13. 61
8808281 1996
16
Etl2, a novel putative type-I cytokine receptor expressed during mouse embryogenesis at high levels in skin and cells with skeletogenic potential. 61
7813775 1994

Variations for Epilepsy, Familial Temporal Lobe, 2

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 2:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPA6 NM_020361.5(CPA6):c.975A>G (p.Ala325=)SNV Conflicting interpretations of pathogenicity 284180 rs138313759 8:68346339-68346339 8:67434104-67434104
2 CPA6 NM_020361.5(CPA6):c.932G>A (p.Arg311Gln)SNV Conflicting interpretations of pathogenicity 363605 rs143321447 8:68346382-68346382 8:67434147-67434147
3 CPA6 NM_020361.5(CPA6):c.1077G>A (p.Gln359=)SNV Conflicting interpretations of pathogenicity 363603 rs143536122 8:68340331-68340331 8:67428096-67428096
4 CPA6 NM_020361.5(CPA6):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 363610 rs201643526 8:68421781-68421781 8:67509546-67509546
5 CPA6 NM_020361.5(CPA6):c.326T>C (p.Ile109Thr)SNV Uncertain significance 363611 rs151119622 8:68423882-68423882 8:67511647-67511647
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_020361.4(CPA6):c.-247C>ASNV Uncertain significance 363620 rs530580560 8:68658611-68658611 8:67746376-67746376
8 CPA6 NM_020361.5(CPA6):c.1126+13C>TSNV Uncertain significance 363602 rs768409721 8:68340269-68340269 8:67428034-67428034
9 CPA6 NM_020361.5(CPA6):c.791G>A (p.Arg264His)SNV Uncertain significance 363607 rs752555064 8:68396050-68396050 8:67483815-67483815
10 CPA6 NM_020361.5(CPA6):c.-45C>ASNV Uncertain significance 363616 rs767794744 8:68658409-68658409 8:67746174-67746174
11 CPA6 NM_020361.5(CPA6):c.-160deldeletion Uncertain significance 363618 rs796925267 8:68658524-68658524 8:67746289-67746289
12 CPA6 NM_020361.5(CPA6):c.*242T>CSNV Uncertain significance 363598 rs527673781 8:68334497-68334497 8:67422262-67422262
13 CPA6 NM_020361.5(CPA6):c.1127-25_1127-24dupduplication Uncertain significance 363601 rs60236534 8:68334940-68334941 8:67422705-67422706
14 CPA6 NM_020361.5(CPA6):c.715A>G (p.Asn239Asp)SNV Uncertain significance 363608 rs886063079 8:68396946-68396946 8:67484711-67484711
15 CPA6 NM_020361.5(CPA6):c.797G>T (p.Arg266Leu)SNV Uncertain significance 363606 rs140612122 8:68396044-68396044 8:67483809-67483809
16 CPA6 NM_020361.5(CPA6):c.538G>A (p.Gly180Ser)SNV Uncertain significance 363609 rs886063080 8:68419120-68419120 8:67506885-67506885
17 CPA6 NM_020361.5(CPA6):c.109T>C (p.Tyr37His)SNV Uncertain significance 363613 rs886063082 8:68658256-68658256 8:67746021-67746021
18 CPA6 NM_020361.5(CPA6):c.-11_-10deldeletion Uncertain significance 363615 rs531326049 8:68658374-68658375 8:67746139-67746140
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.1288A>G (p.Met430Val)SNV Uncertain significance 363599 rs774898194 8:68334765-68334765 8:67422530-67422530
22 CPA6 NM_020361.5(CPA6):c.1127-25dupduplication Uncertain significance 363600 rs60236534 8:68334940-68334941 8:67422705-67422706
23 CPA6 NM_020361.5(CPA6):c.1021A>G (p.Ile341Val)SNV Uncertain significance 363604 rs766177388 8:68346293-68346293 8:67434058-67434058
24 CPA6 NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys)SNV Uncertain significance 363614 rs368736137 8:68658267-68658267 8:67746032-67746032
25 CPA6 NM_020361.4(CPA6):c.-222_-220delGCTshort repeat Uncertain significance 363619 rs144013159 8:68658584-68658586 8:67746349-67746351
26 CPA6 NM_020361.5(CPA6):c.383G>A (p.Arg128Gln)SNV Uncertain significance 197321 rs779117472 8:68423825-68423825 8:67511590-67511590
27 CPA6 NM_020361.5(CPA6):c.491C>T (p.Ser164Phe)SNV Uncertain significance 77390 rs267601975 8:68421795-68421795 8:67509560-67509560
28 CPA6 NM_020361.5(CPA6):c.*328A>GSNV Likely benign 363596 rs3395 8:68334411-68334411 8:67422176-67422176
29 CPA6 NM_020361.4(CPA6):c.-269G>ASNV Likely benign 369613 rs2553663 8:68658633-68658633 8:67746398-67746398
30 CPA6 NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)SNV Benign/Likely benign 128845 rs10957393 8:68536470-68536470 8:67624235-67624235
31 CPA6 NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)SNV Benign/Likely benign 128846 rs17853192 8:68421768-68421768 8:67509533-67509533
32 CPA6 NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)SNV Benign/Likely benign 128847 rs17343819 8:68396915-68396915 8:67484680-67484680

Expression for Epilepsy, Familial Temporal Lobe, 2

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Pathways for Epilepsy, Familial Temporal Lobe, 2

GO Terms for Epilepsy, Familial Temporal Lobe, 2

Sources for Epilepsy, Familial Temporal Lobe, 2

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72 UMLS via Orphanet
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