EIG14
MCID: EPL165
MIFTS: 19

Epilepsy, Idiopathic Generalized 14 (EIG14)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 14

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 14:

Name: Epilepsy, Idiopathic Generalized 14 58 76
Epilepsy, Idiopathic Generalized, Susceptibility to, 14 58 30 6
Eig14 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable age at onset, but most often in the first 2 decades


HPO:

33
epilepsy, idiopathic generalized 14:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 14

UniProtKB/Swiss-Prot : 76 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, is also known as epilepsy, idiopathic generalized, susceptibility to, 14. An important gene associated with Epilepsy, Idiopathic Generalized 14 is SLC12A5 (Solute Carrier Family 12 Member 5). Affiliated tissues include brain, and related phenotypes are febrile seizures and generalized myoclonic seizures

Description from OMIM: 616685

Related Diseases for Epilepsy, Idiopathic Generalized 14

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 14

Human phenotypes related to Epilepsy, Idiopathic Generalized 14:

33
# Description HPO Frequency HPO Source Accession
1 febrile seizures 33 occasional (7.5%) HP:0002373
2 generalized myoclonic seizures 33 HP:0002123
3 generalized tonic-clonic seizures 33 HP:0002069
4 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SLC12A5

Anatomical Context for Epilepsy, Idiopathic Generalized 14

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 14:

42
Brain

Publications for Epilepsy, Idiopathic Generalized 14

Articles related to Epilepsy, Idiopathic Generalized 14:

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

Variations for Epilepsy, Idiopathic Generalized 14

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

76
# Symbol AA change Variation ID SNP ID
1 SLC12A5 p.Arg975His VAR_075081 rs142740233
2 SLC12A5 p.Arg1072Cys VAR_075083 rs548424453

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 14:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A5 NM_020708.4(SLC12A5): c.2855G> A (p.Arg952His) single nucleotide variant Benign rs142740233 GRCh37 Chromosome 20, 44684856: 44684856
2 SLC12A5 NM_020708.4(SLC12A5): c.2855G> A (p.Arg952His) single nucleotide variant Benign rs142740233 GRCh38 Chromosome 20, 46056217: 46056217
3 SLC12A5 NM_001134771.1(SLC12A5): c.3214C> T (p.Arg1072Cys) single nucleotide variant risk factor rs548424453 GRCh38 Chromosome 20, 46057189: 46057189
4 SLC12A5 NM_001134771.1(SLC12A5): c.3214C> T (p.Arg1072Cys) single nucleotide variant risk factor rs548424453 GRCh37 Chromosome 20, 44685828: 44685828
5 SLC12A5 NM_020708.4(SLC12A5): c.2452C> G (p.Pro818Ala) single nucleotide variant Uncertain significance rs201268862 GRCh37 Chromosome 20, 44681670: 44681670
6 SLC12A5 NM_020708.4(SLC12A5): c.2452C> G (p.Pro818Ala) single nucleotide variant Uncertain significance rs201268862 GRCh38 Chromosome 20, 46053031: 46053031
7 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh37 Chromosome 20, 44686150: 44686150
8 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh38 Chromosome 20, 46057511: 46057511
9 SLC12A5 NM_020708.4(SLC12A5): c.1306A> G (p.Ile436Val) single nucleotide variant Uncertain significance rs140326431 GRCh37 Chromosome 20, 44672340: 44672340
10 SLC12A5 NM_020708.4(SLC12A5): c.1306A> G (p.Ile436Val) single nucleotide variant Uncertain significance rs140326431 GRCh38 Chromosome 20, 46043701: 46043701
11 SLC12A5 NM_020708.4(SLC12A5): c.2439G> A (p.Met813Ile) single nucleotide variant Uncertain significance rs200191107 GRCh37 Chromosome 20, 44681657: 44681657
12 SLC12A5 NM_020708.4(SLC12A5): c.2439G> A (p.Met813Ile) single nucleotide variant Uncertain significance rs200191107 GRCh38 Chromosome 20, 46053018: 46053018

Expression for Epilepsy, Idiopathic Generalized 14

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

Pathways for Epilepsy, Idiopathic Generalized 14

GO Terms for Epilepsy, Idiopathic Generalized 14

Sources for Epilepsy, Idiopathic Generalized 14

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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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46 MESH via Orphanet
47 MGI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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