EIG16
MCID: EPL247
MIFTS: 16

Epilepsy, Idiopathic Generalized 16 (EIG16)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 16

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 16:

Name: Epilepsy, Idiopathic Generalized 16 57 73
Epilepsy, Idiopathic Generalized, Susceptibility to, 16 57 29 6
Eig16 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
onset soon after birth or in the first years of life
favorable response to treatment with levetiracetam
two unrelated patients have been reported (last curated september 2019)


HPO:

31
epilepsy, idiopathic generalized 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618596
OMIM Phenotypic Series 57 PS600669
MeSH 44 D004829

Summaries for Epilepsy, Idiopathic Generalized 16

UniProtKB/Swiss-Prot : 73 Epilepsy, idiopathic generalized 16: 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. EIG16 is characterized by onset of seizures soon after birth or in the first years of life.

MalaCards based summary : Epilepsy, Idiopathic Generalized 16, is also known as epilepsy, idiopathic generalized, susceptibility to, 16. An important gene associated with Epilepsy, Idiopathic Generalized 16 is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). Related phenotypes are global developmental delay and microcephaly

More information from OMIM: 618596 PS600669

Related Diseases for Epilepsy, Idiopathic Generalized 16

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 16

Human phenotypes related to Epilepsy, Idiopathic Generalized 16:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 microcephaly 31 very rare (1%) HP:0000252
3 short stature 31 very rare (1%) HP:0004322
4 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
5 multifocal epileptiform discharges 31 very rare (1%) HP:0010841
6 atypical absence seizure 31 very rare (1%) HP:0007270
7 myoclonic seizure 31 very rare (1%) HP:0032794
8 myoclonic absence seizure 31 very rare (1%) HP:0011150

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
myoclonic seizures
absence seizures
developmental delay, mild
multifocal discharges seen on eeg
atypical absence seizures
more
Head And Neck Head:
small head circumference (patient a)

Growth Height:
short stature (patient a)

Clinical features from OMIM®:

618596 (Updated 05-Mar-2021)

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 16

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 16

Genetic Tests for Epilepsy, Idiopathic Generalized 16

Genetic tests related to Epilepsy, Idiopathic Generalized 16:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility to, 16 29 KCNMA1

Anatomical Context for Epilepsy, Idiopathic Generalized 16

Publications for Epilepsy, Idiopathic Generalized 16

Articles related to Epilepsy, Idiopathic Generalized 16:

# Title Authors PMID Year
1
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. 57
29330545 2018

Variations for Epilepsy, Idiopathic Generalized 16

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNMA1 NM_001161352.2(KCNMA1):c.1127G>A (p.Gly376Glu) SNV Uncertain significance 983014 10:78869935-78869935 10:77110177-77110177

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 16:

73
# Symbol AA change Variation ID SNP ID
1 KCNMA1 p.Asn1053Ser VAR_079157 rs886039469

Expression for Epilepsy, Idiopathic Generalized 16

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 16.

Pathways for Epilepsy, Idiopathic Generalized 16

GO Terms for Epilepsy, Idiopathic Generalized 16

Sources for Epilepsy, Idiopathic Generalized 16

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