EIG14
MCID: EPL165
MIFTS: 18

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 57 75
Epilepsy, Idiopathic Generalized, Susceptibility to, 14 57 29 6
Eig14 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, idiopathic generalized 14:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 14

UniProtKB/Swiss-Prot : 75 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 generalized myoclonic seizures and generalized tonic-clonic seizures

Description from OMIM: 616685

Related Diseases for Epilepsy, Idiopathic Generalized 14

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 14

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
generalized tonic-clonic seizures
absence seizures
myoclonic seizures
generalized spike-wave discharges seen on eeg
more

Clinical features from OMIM:

616685

Human phenotypes related to Epilepsy, Idiopathic Generalized 14:

32
# Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 32 HP:0002123
2 generalized tonic-clonic seizures 32 HP:0002069
3 absence seizures 32 HP:0002121
4 febrile seizures 32 occasional (7.5%) HP:0002373

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

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

41
Brain

Publications for Epilepsy, Idiopathic Generalized 14

Variations for Epilepsy, Idiopathic Generalized 14

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

75
# 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
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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