EIG14
MCID: EPL165
MIFTS: 30

Epilepsy, Idiopathic Generalized 14 (EIG14)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 14

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 14:

Name: Epilepsy, Idiopathic Generalized 14 57 72
Epilepsy, Idiopathic Generalized, Susceptibility to, 14 57 29 6
Eig14 57 12 72
Idiopathic Generalized Epilepsy 14 12 15

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
variable age at onset, but most often in the first 2 decades

Inheritance:
autosomal dominant


HPO:

31
epilepsy, idiopathic generalized 14:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111315
OMIM® 57 616685
OMIM Phenotypic Series 57 PS600669
MeSH 44 D004829

Summaries for Epilepsy, Idiopathic Generalized 14

UniProtKB/Swiss-Prot : 72 Epilepsy, idiopathic generalized 14: An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures.

MalaCards based summary : Epilepsy, Idiopathic Generalized 14, also known as epilepsy, idiopathic generalized, susceptibility to, 14, is related to epilepsy, idiopathic generalized and hypothalamic hamartomas. An important gene associated with Epilepsy, Idiopathic Generalized 14 is SLC12A5 (Solute Carrier Family 12 Member 5), and among its related pathways/superpathways is Neuroscience. Related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and bilateral tonic-clonic seizure

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the SLC12A5 on chromosome 20q13.12.

More information from OMIM: 616685 PS600669

Related Diseases for Epilepsy, Idiopathic Generalized 14

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 14:



Diseases related to Epilepsy, Idiopathic Generalized 14

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 14

Human phenotypes related to Epilepsy, Idiopathic Generalized 14:

31
# Description HPO Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
2 bilateral tonic-clonic seizure 31 HP:0002069
3 generalized myoclonic seizure 31 HP:0002123
4 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
generalized tonic-clonic seizures
myoclonic seizures
absence seizures
generalized spike-wave discharges seen on eeg
more

Clinical features from OMIM®:

616685 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Epilepsy, Idiopathic Generalized 14 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 SLC12A5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.5 SLC12A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.5 SLC12A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.5 SLC12A5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.5 SLC12A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.5 SLC12A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 SLC12A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.5 SLC12A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.5 SLC12A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.5 SLC12A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 SLC12A5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 SLC12A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.5 SLC12A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.5 SLC12A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.5 SLC12A2

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 14

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 14

Genetic Tests for Epilepsy, Idiopathic Generalized 14

Genetic tests related to Epilepsy, Idiopathic Generalized 14:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility to, 14 29 SLC12A5

Anatomical Context for Epilepsy, Idiopathic Generalized 14

Publications for Epilepsy, Idiopathic Generalized 14

Articles related to Epilepsy, Idiopathic Generalized 14:

# Title Authors PMID Year
1
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. 6 57
24928908 2014
2
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. 6 57
24668262 2014
3
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016

Variations for Epilepsy, Idiopathic Generalized 14

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC12A5 NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys) SNV risk factor 218378 rs548424453 GRCh37: 20:44685828-44685828
GRCh38: 20:46057189-46057189
2 SLC12A5 NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) SNV Uncertain significance 218377 rs142740233 GRCh37: 20:44684856-44684856
GRCh38: 20:46056217-46056217
3 SLC12A5 NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) SNV Uncertain significance 542315 rs140326431 GRCh37: 20:44672340-44672340
GRCh38: 20:46043701-46043701
4 SLC12A5 NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) SNV Uncertain significance 542320 rs200191107 GRCh37: 20:44681657-44681657
GRCh38: 20:46053018-46053018
5 SLC12A5 NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) SNV Uncertain significance 475651 rs201268862 GRCh37: 20:44681670-44681670
GRCh38: 20:46053031-46053031
6 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3260-3C>A SNV Uncertain significance 475655 rs762852631 GRCh37: 20:44686150-44686150
GRCh38: 20:46057511-46057511
7 SLC12A5 NM_020708.5(SLC12A5):c.2545A>G (p.Lys849Glu) SNV Uncertain significance 634450 rs1568867619 GRCh37: 20:44681763-44681763
GRCh38: 20:46053124-46053124
8 SLC12A5 NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu) SNV Uncertain significance 689788 rs1600595577 GRCh37: 20:44670074-44670074
GRCh38: 20:46041435-46041435
9 SLC12A5 NM_020708.5(SLC12A5):c.1348G>A (p.Val450Ile) SNV Uncertain significance 631485 rs745565201 GRCh37: 20:44672526-44672526
GRCh38: 20:46043887-46043887

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 14:

72
# Symbol AA change Variation ID SNP ID
1 SLC12A5 p.Arg975His VAR_075081 rs142740233
2 SLC12A5 p.Arg1072Cys VAR_075083 rs548424453

Expression for Epilepsy, Idiopathic Generalized 14

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 14.

Pathways for Epilepsy, Idiopathic Generalized 14

Pathways related to Epilepsy, Idiopathic Generalized 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 SLC12A5 SLC12A2

GO Terms for Epilepsy, Idiopathic Generalized 14

Cellular components related to Epilepsy, Idiopathic Generalized 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 SLC12A5 SLC12A2
2 apical plasma membrane GO:0016324 9.16 STK39 SLC12A2
3 basolateral plasma membrane GO:0016323 8.96 STK39 SLC12A2
4 cell periphery GO:0071944 8.62 SLC12A5 SLC12A2

Biological processes related to Epilepsy, Idiopathic Generalized 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.48 SLC12A5 SLC12A2
2 potassium ion transmembrane transport GO:0071805 9.46 SLC12A5 SLC12A2
3 chloride transmembrane transport GO:1902476 9.43 SLC12A5 SLC12A2
4 chloride transport GO:0006821 9.4 SLC12A5 SLC12A2
5 potassium ion import across plasma membrane GO:1990573 9.37 SLC12A5 SLC12A2
6 cell volume homeostasis GO:0006884 9.32 SLC12A5 SLC12A2
7 cellular response to chemokine GO:1990869 9.26 STK39 SLC12A2
8 potassium ion homeostasis GO:0055075 9.16 SLC12A5 SLC12A2
9 chloride ion homeostasis GO:0055064 8.96 SLC12A5 SLC12A2
10 cellular chloride ion homeostasis GO:0030644 8.62 SLC12A5 SLC12A2

Molecular functions related to Epilepsy, Idiopathic Generalized 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.33 STK39 SLC12A5 SLC12A2
2 transmembrane transporter activity GO:0022857 9.32 SLC12A5 SLC12A2
3 symporter activity GO:0015293 9.26 SLC12A5 SLC12A2
4 potassium:chloride symporter activity GO:0015379 8.96 SLC12A5 SLC12A2
5 cation:chloride symporter activity GO:0015377 8.62 SLC12A5 SLC12A2

Sources for Epilepsy, Idiopathic Generalized 14

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