MCID: EPL209
MIFTS: 59

Epilepsy, Idiopathic Generalized 10

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 10

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 10:

Name: Epilepsy, Idiopathic Generalized 10 57 75 29 6
Juvenile Myoclonic Epilepsy 12 76 53 25 59 29 6 15
Janz Syndrome 12 53 25
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 57 13
Generalized Epilepsy with Febrile Seizures Plus Type 5 29 6
Epilepsy, Juvenile Myoclonic 7 29 6
Myoclonic Epilepsy, Juvenile 44 73
Petit Mal, Impulsive 53 25
Eig10 57 75
Jme 53 59
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 10 40
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 57
Epilepsy, Idiopathic Generalized, Susceptibility to, 10 57
Generalized Epilepsy with Febrile Seizures Plus, Type 5 73
Susceptibility to Idiopathic Generalized Epilepsy 10 75
Generalized Epilepsy with Febrile Seizures Plus 5 75
Epilepsy, Juvenile Myoclonic, Susceptibility to 57
Susceptibility to Juvenile Myoclonic Epilepsy 7 75
Epilepsy, Idiopathic Generalized, 10 57
Myoclonic Epilepsy, Juvenile, 1 53
Adolescent Myoclonic Epilepsy 25
Juvenile Myoclonic Epilepsy 7 75
Epilepsy, Myoclonic, Juvenile 40
Epilepsy, Juvenile Myoclonic 57
Juvenile Myoclonus Epilepsy 59
Myoclonic Epilepsy Juvenile 55
Gefs+ Type 5 75
Gefsp5 75
Gefs+5 75
Ejm7 75
Ejm 53

Characteristics:

Orphanet epidemiological data:

59
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset of febrile seizures typically between 6 months and 6 years of age
simple febrile seizures usually remit by age 6 years
some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
some patients have juvenile-onset myoclonic epilepsy


HPO:

32
epilepsy, idiopathic generalized 10:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613060
Disease Ontology 12 DOID:4890
NCIt 50 C84796
SNOMED-CT 68 6204001
Orphanet 59 ORPHA307
MESH via Orphanet 45 D020190
UMLS via Orphanet 74 C0270853
ICD10 via Orphanet 34 G40.3

Summaries for Epilepsy, Idiopathic Generalized 10

Genetics Home Reference : 25 Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.

MalaCards based summary : Epilepsy, Idiopathic Generalized 10, also known as juvenile myoclonic epilepsy, is related to epilepsy, myoclonic juvenile and epilepsy, idiopathic generalized, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Idiopathic Generalized 10 is GABRD (Gamma-Aminobutyric Acid Type A Receptor Delta Subunit), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include brain, temporal lobe and thalamus, and related phenotypes are generalized myoclonic seizures and generalized tonic-clonic seizures

OMIM : 57 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see 600669. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see 254770. (613060)

UniProtKB/Swiss-Prot : 75 Epilepsy, idiopathic generalized 10: 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. Generalized epilepsy with febrile seizures plus 5: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Juvenile myoclonic epilepsy 7: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

NIH Rare Diseases : 53 Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

Disease Ontology : 12 A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.

Wikipedia : 76 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic... more...

Related Diseases for Epilepsy, Idiopathic Generalized 10

Diseases in the Epilepsy, Idiopathic Generalized family:

Epilepsy, Idiopathic Generalized 7 Epilepsy, Idiopathic Generalized 2
Epilepsy, Idiopathic Generalized 11 Epilepsy, Idiopathic Generalized 9
Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 4
Epilepsy, Idiopathic Generalized 13 Epilepsy, Idiopathic Generalized 5
Epilepsy, Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 10
Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 14

Diseases related to Epilepsy, Idiopathic Generalized 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 epilepsy, myoclonic juvenile 32.6 CACNB4 EFHC1
2 epilepsy, idiopathic generalized 29.7 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1
3 epilepsy 29.6 CACNB4 CHRNA4 EFHC1 GABRA1 GABRD GABRG2
4 myoclonic epilepsy, juvenile 4 12.2
5 myoclonic epilepsy, juvenile 3 12.2
6 epilepsy, juvenile myoclonic 10 12.2
7 epilepsy, juvenile myoclonic 9 12.2
8 epilepsy, idiopathic generalized 7 11.4
9 epilepsy, idiopathic generalized 13 11.4
10 epilepsy, idiopathic generalized 11 10.9
11 juvenile absence epilepsy 10.8 CLCN2 EFHC1 GABRA1
12 myoclonic epilepsy of infancy 10.7 GABRG2 SCN1A
13 unverricht-lundborg syndrome 10.6 EFHC1 KCNQ3 TBC1D24
14 neonatal period electroclinical syndrome 10.6 KCNQ3 SCN1A TBC1D24
15 infancy electroclinical syndrome 10.6 GABRG2 SCN1A TBC1D24
16 episodic ataxia, type 2 10.6 CACNB4 KCNA1
17 agenesis of the corpus callosum with peripheral neuropathy 10.6 CLCN2 SLC12A6 TBC1D24
18 malignant migrating partial seizures of infancy 10.6 SCN1A TBC1D24
19 febrile seizures 10.5 CHRNA4 GABRD GABRG2 SCN1A
20 lennox-gastaut syndrome 10.5 GABRA1 SCN1A TBC1D24
21 benign epilepsy with centrotemporal spikes 10.5 GABRG2 KCNQ3 SLC12A6 TBC1D24
22 epilepsy with generalized tonic-clonic seizures 10.4 EFHC1 PAQR8 SCN1A TBC1D24
23 childhood electroclinical syndrome 10.4 CLCN2 EFHC1 GABRA1 GABRG2 TBC1D24
24 benign familial neonatal epilepsy 10.4 KCNQ3 TBC1D24
25 seizures, benign familial infantile, 3 10.4 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
26 epilepsy, nocturnal frontal lobe, 1 10.3 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
27 episodic ataxia, type 1 10.2 CACNB4 KCNA1
28 epileptic encephalopathy, early infantile, 6 10.2 GABRA1 GABRD GABRG2 KCNQ3 SCN1A TBC1D24
29 focal epilepsy 10.1 CHRNA4 GABRD GABRG2 KCNA1 SCN1A TBC1D24
30 myoclonus epilepsy 10.0
31 myoclonus 10.0
32 generalized epilepsy with febrile seizures plus 9.8 EFHC1 GABRA1 GABRD GABRG2 KCNQ3 ME2
33 childhood absence epilepsy 9.8 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1 GABRG2
34 adolescence-adult electroclinical syndrome 9.5 BRD2 CACNB4 CLCN2 EFHC1 GABRA1 GABRD

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 10:



Diseases related to Epilepsy, Idiopathic Generalized 10

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 10

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
febrile seizures
seizures, generalized, associated with fever
myoclonic seizures
more

Clinical features from OMIM:

613060

Human phenotypes related to Epilepsy, Idiopathic Generalized 10:

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 HP:0002373
5 focal seizures 32 HP:0007359

UMLS symptoms related to Epilepsy, Idiopathic Generalized 10:


myoclonus, absence seizures

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 GABRD GABRG2 GRM4 KCNA1 KCNQ3 SCN1A
2 nervous system MP:0003631 9.8 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1
3 hearing/vestibular/ear MP:0005377 9.63 CACNB4 GABRA1 GABRD KCNA1 SLC12A6 TRAM2
4 reproductive system MP:0005389 9.23 CACNB4 CLCN2 GABBR1 GABRA1 GABRD GABRG2

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
2 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized 10

Cochrane evidence based reviews: myoclonic epilepsy, juvenile

Genetic Tests for Epilepsy, Idiopathic Generalized 10

Genetic tests related to Epilepsy, Idiopathic Generalized 10:

# Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy 29 EFHC1
2 Epilepsy, Juvenile Myoclonic 7 29
3 Epilepsy, Idiopathic Generalized 10 29 GABRD
4 Generalized Epilepsy with Febrile Seizures Plus Type 5 29

Anatomical Context for Epilepsy, Idiopathic Generalized 10

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 10:

41
Brain, Temporal Lobe, Thalamus, Eye, Heart, Cortex, Occipital Lobe

Publications for Epilepsy, Idiopathic Generalized 10

Articles related to Epilepsy, Idiopathic Generalized 10:

(show top 50) (show all 421)
# Title Authors Year
1
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? ( 29490292 )
2018
2
Wolff-Parkinson-White Syndrome in a Patient with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Mimicking Juvenile Myoclonic Epilepsy. ( 29629547 )
2018
3
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
4
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. ( 29539279 )
2018
5
Sleep architecture in patients with Juvenile Myoclonic Epilepsy. ( 29031745 )
2017
6
Proton spectroscopy of the thalamus in a homogeneous sample of patients with easy-to-control juvenile myoclonic epilepsy. ( 29085160 )
2017
7
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. ( 27467453 )
2017
8
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway. ( 27861775 )
2017
9
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. ( 28370826 )
2017
10
Exploring psychiatric comorbidities and their effects on quality of life in patients with temporal lobe epilepsy and juvenile myoclonic epilepsy. ( 28025856 )
2016
11
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0A Hz polyspike waves. ( 27066514 )
2016
12
Complex discharge-affecting networks in juvenile myoclonic epilepsy: A simultaneous EEG-fMRI study. ( 27159669 )
2016
13
Effect of valproate on the sleep microstructure of juvenile myoclonic epilepsy patients - a cross-sectional CAP based study. ( 26847987 )
2016
14
Evaluation of Glutamic Acid Decarboxylase Antibody Levels in Patients with Juvenile Myoclonic Epilepsy and Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis. ( 28373803 )
2016
15
The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy. ( 26054439 )
2015
16
Fronto-insula network activity explains emotional dysfunctions in juvenile myoclonic epilepsy: Combined evidence from pupillometry and fMRI. ( 25754503 )
2015
17
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. ( 25752200 )
2015
18
Auditory startle response is normal in juvenile myoclonic epilepsy. ( 25805707 )
2015
19
Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy. ( 25625532 )
2015
20
Distinct domains of impulsivity are impaired in juvenile myoclonic epilepsy but not in temporal lobe epilepsy. ( 25819744 )
2015
21
Behavioral and Movement Disorders due to Long-Lasting Myoclonic Status Epilepticus Misdiagnosed as ADHD in a Patient With Juvenile Myoclonic Epilepsy: Electroclinical Findings and Related Hemodynamic Changes. ( 25733678 )
2015
22
Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy. ( 25992517 )
2015
23
Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis. ( 25610771 )
2015
24
Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy. ( 25608119 )
2015
25
Lack of heart rate variability during apnea in patients with juvenile myoclonic epilepsy (JME). ( 25643767 )
2015
26
Mixed myoclonic-absence status epilepticus in juvenile myoclonic epilepsy. ( 25644293 )
2015
27
Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction. ( 25561943 )
2014
28
Factors associated with lack of response to valproic acid monotherapy in juvenile myoclonic epilepsy. ( 24794160 )
2014
29
Hirayama disease with juvenile myoclonic epilepsy: A case report. ( 25221414 )
2014
30
Seizure outcome in 175 patients with juvenile myoclonic epilepsy--a long-term observational study. ( 25443450 )
2014
31
Juvenile Myoclonic Epilepsy Is Not Associated with the DRPLA Gene in a European Population. ( 25398822 )
2014
32
PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy. ( 24892753 )
2014
33
Frontal and thalamic changes of GABA concentration indicate dysfunction of thalamofrontal networks in juvenile myoclonic epilepsy. ( 24902613 )
2014
34
Focal epilepsy recruiting a generalised network of juvenile myoclonic epilepsy: a case report. ( 25166001 )
2014
35
Neurodevelopment in new-onset juvenile myoclonic epilepsy over the first 2 years. ( 25087843 )
2014
36
Juvenile myoclonic epilepsy with multiple sclerosis: is there a dual role for valproate? ( 25100809 )
2014
37
Juvenile myoclonic epilepsy-what does the future look like? ( 24940162 )
2014
38
Epidemiology and clinical manifestations of juvenile myoclonic epilepsy (JME) in Iran. ( 25475047 )
2014
39
Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. ( 25209080 )
2014
40
Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population. ( 24840839 )
2014
41
Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy. ( 24931665 )
2014
42
A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures. ( 24842605 )
2014
43
Clinical genetic study in juvenile myoclonic epilepsy. ( 25108570 )
2014
44
Clinical predictors of the long-term social outcome and quality of life in juvenile myoclonic epilepsy: 20-65A years of follow-up. ( 24417603 )
2014
45
Terminal remission is possible in some patients with juvenile myoclonic epilepsy without therapy. ( 25675827 )
2014
46
The juvenile myoclonic epilepsy mutant of the calcium channel I^ 4 subunit displays normal nuclear targeting in nerve and muscle cells. ( 24875574 )
2014
47
Abnormal response to photic stimulation in juvenile myoclonic epilepsy: an EEG-fMRI study. ( 24861441 )
2014
48
A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy. ( 24938758 )
2014
49
Psychosocial long-term outcome in juvenile myoclonic epilepsy. ( 25209164 )
2014
50
Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study. ( 25481722 )
2014

Variations for Epilepsy, Idiopathic Generalized 10

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 10:

75
# Symbol AA change Variation ID SNP ID
1 GABRD p.Glu177Ala VAR_043151 rs121434580

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 10:

6
(show top 50) (show all 506)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
2 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
3 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh37 Chromosome 6, 52317540: 52317540
4 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh38 Chromosome 6, 52452742: 52452742
5 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
6 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
7 GABRD NM_000815.4(GABRD): c.530A> C (p.Glu177Ala) single nucleotide variant risk factor rs121434580 GRCh37 Chromosome 1, 1959075: 1959075
8 GABRD NM_000815.4(GABRD): c.530A> C (p.Glu177Ala) single nucleotide variant risk factor rs121434580 GRCh38 Chromosome 1, 2027636: 2027636
9 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
10 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
11 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
12 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
13 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556761275 GRCh37 Chromosome 2, 152695629: 152695629
14 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556761275 GRCh38 Chromosome 2, 151839115: 151839115
15 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
16 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
17 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
18 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
19 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
20 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
21 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
22 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
23 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
24 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
25 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 GRCh38 Chromosome 5, 161850807: 161850807
26 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 GRCh37 Chromosome 5, 161277813: 161277813
27 EFHC1 NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 GRCh37 Chromosome 6, 52285251: 52285251
28 EFHC1 NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 GRCh38 Chromosome 6, 52420453: 52420453
29 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh37 Chromosome 6, 52288777: 52288777
30 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh38 Chromosome 6, 52423979: 52423979
31 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh37 Chromosome 6, 52288831: 52288831
32 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh38 Chromosome 6, 52424033: 52424033
33 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh38 Chromosome 6, 52424148: 52424148
34 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh37 Chromosome 6, 52288946: 52288946
35 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh38 Chromosome 6, 52438565: 52438565
36 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh37 Chromosome 6, 52303363: 52303363
37 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh37 Chromosome 6, 52317573: 52317573
38 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh38 Chromosome 6, 52452775: 52452775
39 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh38 Chromosome 6, 52454102: 52454102
40 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh37 Chromosome 6, 52318900: 52318900
41 EFHC1 NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 GRCh38 Chromosome 6, 52454150: 52454150
42 EFHC1 NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 GRCh37 Chromosome 6, 52318948: 52318948
43 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh37 Chromosome 6, 52318986: 52318986
44 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh38 Chromosome 6, 52454188: 52454188
45 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh38 Chromosome 6, 52465035: 52465035
46 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh37 Chromosome 6, 52329833: 52329833
47 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh37 Chromosome 6, 52329890: 52329890
48 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh38 Chromosome 6, 52465092: 52465092
49 EFHC1 NM_018100.3(EFHC1): c.1370G> T (p.Arg457Leu) single nucleotide variant Uncertain significance rs369468811 GRCh38 Chromosome 6, 52479128: 52479128
50 EFHC1 NM_018100.3(EFHC1): c.1370G> T (p.Arg457Leu) single nucleotide variant Uncertain significance rs369468811 GRCh37 Chromosome 6, 52343926: 52343926

Expression for Epilepsy, Idiopathic Generalized 10

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 10.

Pathways for Epilepsy, Idiopathic Generalized 10

Pathways related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 CHRNA4 GABBR1 GRM4 KCNQ3 SCN1A
2
Show member pathways
12.55 CACNB4 CHRNA4 GABBR1 GABRA1 GABRG2 KCNA1
3
Show member pathways
12.18 GABBR1 GABRA1 GABRD GABRG2
4
Show member pathways
11.8 GABBR1 KCNA1 KCNQ3
5
Show member pathways
11.74 GABBR1 GABRA1 GABRG2
6
Show member pathways
11.67 GABBR1 GABRA1 GRM4
7 10.97 KCNQ3 SCN1A
8 10.86 CHRNA4 GABRA1 GABRD GABRG2
9
Show member pathways
10.58 GABRA1 GABRG2
10 10.46 GABBR1 GRM4
11 10.15 GABBR1 GABRA1 GABRD GABRG2

GO Terms for Epilepsy, Idiopathic Generalized 10

Cellular components related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.91 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
2 synapse GO:0045202 9.88 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
3 neuronal cell body GO:0043025 9.81 CHRNA4 EFHC1 KCNA1 SCN1A
4 postsynaptic membrane GO:0045211 9.65 CHRNA4 GABBR1 GABRA1 GABRD GABRG2
5 presynaptic membrane GO:0042734 9.61 GABBR1 GRM4 KCNA1
6 dendrite membrane GO:0032590 9.52 GABRA1 GABRG2
7 node of Ranvier GO:0033268 9.49 KCNQ3 SCN1A
8 axon initial segment GO:0043194 9.46 KCNQ3 SCN1A
9 GABA-A receptor complex GO:1902711 9.33 GABRA1 GABRD GABRG2
10 integral component of plasma membrane GO:0005887 9.32 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
11 chloride channel complex GO:0034707 9.26 CLCN2 GABRA1 GABRD GABRG2
12 integral component of membrane GO:0016021 10.29 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
13 plasma membrane GO:0005886 10.17 CACNB4 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD

Biological processes related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 CLCN2 KCNA1 KCNQ3 SCN1A SLC12A6
2 regulation of ion transmembrane transport GO:0034765 9.8 CACNB4 CLCN2 KCNA1 KCNQ3 SCN1A
3 ion transmembrane transport GO:0034220 9.8 CHRNA4 CLCN2 GABRA1 GABRD GABRG2 SCN1A
4 potassium ion transport GO:0006813 9.74 KCNA1 KCNQ3 SLC12A6
5 potassium ion transmembrane transport GO:0071805 9.73 KCNA1 KCNQ3 SLC12A6
6 chloride transport GO:0006821 9.73 CLCN2 GABRA1 GABRD GABRG2
7 nervous system process GO:0050877 9.67 CHRNA4 GABRA1 GABRD GABRG2
8 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA4 GABRA1 GABRG2
9 chloride transmembrane transport GO:1902476 9.65 CLCN2 GABRA1 GABRD GABRG2 SLC12A6
10 ion transport GO:0006811 9.65 CACNB4 CHRNA4 CLCN2 GABRA1 GABRD GABRG2
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.63 GABBR1 GABRA1 GABRG2
12 regulation of membrane potential GO:0042391 9.63 CHRNA4 GABRA1 GABRD GABRG2 KCNA1 SCN1A
13 neuronal action potential GO:0019228 9.58 KCNA1 SCN1A
14 membrane depolarization GO:0051899 9.55 CACNB4 CHRNA4
15 synaptic transmission, GABAergic GO:0051932 9.52 GABRA1 GABRG2
16 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.51 KCNA1 SCN1A
17 cellular response to histamine GO:0071420 9.49 GABRA1 GABRG2
18 chemical synaptic transmission GO:0007268 9.28 CACNB4 CHRNA4 GABRA1 GABRD GABRG2 GRM4

Molecular functions related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.63 KCNA1 KCNQ3 SCN1A
2 delayed rectifier potassium channel activity GO:0005251 9.48 KCNA1 KCNQ3
3 chloride channel activity GO:0005254 9.46 CLCN2 GABRA1 GABRD GABRG2
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.43 GABRA1 GABRG2
5 GABA-A receptor activity GO:0004890 9.43 GABRA1 GABRD GABRG2
6 GABA-gated chloride ion channel activity GO:0022851 9.4 GABRA1 GABRG2
7 benzodiazepine receptor activity GO:0008503 9.37 GABRA1 GABRG2
8 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.32 GABRA1 GABRG2
9 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA4 GABRA1 GABRD GABRG2
10 ion channel activity GO:0005216 9.1 CHRNA4 GABRA1 GABRD GABRG2 KCNA1 SCN1A

Sources for Epilepsy, Idiopathic Generalized 10

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
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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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