Epilepsy, Idiopathic Generalized 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epilepsy, Idiopathic Generalized 3

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 3:

Name: Epilepsy, Idiopathic Generalized 3 ⁵⁶

Epilepsy, Idiopathic Generalized, Susceptibility to, 3 ⁵⁶ ¹³

Idiopathic Generalized Epilepsy 3 ¹² ¹⁵

Eig3 ⁵⁶ ¹²

Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 9 ⁵⁶

Epilepsy, Idiopathic Generalized Locus on Chromosome 9 ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
seizures may occur upon awakening or at any time during the day
onset in childhood or teenage years (7 to 16 years)

HPO:

³¹

epilepsy, idiopathic generalized 3:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111318

OMIM ⁵⁶ 608762

OMIM Phenotypic Series ⁵⁶ PS600669

MedGen ⁴¹ C1837468

SNOMED-CT via HPO ⁶⁸ 128613002 246545002 258211005 more

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Summaries for Epilepsy, Idiopathic Generalized 3

Disease Ontology : ¹² An idiopathic generalized epilepsy that has material basis in variation in a region on chromosome 9q32-q33.

MalaCards based summary : Epilepsy, Idiopathic Generalized 3, also known as epilepsy, idiopathic generalized, susceptibility to, 3, is related to epilepsy, idiopathic generalized and subependymal glioma. An important gene associated with Epilepsy, Idiopathic Generalized 3 is EIG3 (Epilepsy, Idiopathic Generalized, Susceptibility To 3), and among its related pathways/superpathways are Gene Expression and Chks in Checkpoint Regulation. Related phenotypes are cutaneous photosensitivity and seizure

More information from OMIM: 608762 PS600669

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Related Diseases for Epilepsy, Idiopathic Generalized 3

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
Epilepsy, Idiopathic Generalized 15	Epilepsy, Idiopathic Generalized 16

Diseases related to Epilepsy, Idiopathic Generalized 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	epilepsy, idiopathic generalized	11.4
2	subependymal glioma	9.9	MLST8 EPRS1
3	pediatric systemic lupus erythematosus	9.9	MYC E2F1
4	frontal lobe neoplasm	9.8	TOP2A MYC
5	retinal cancer	9.7	MYC E2F4 E2F1
6	ocular cancer	9.7	MYC E2F4 E2F1
7	syndromic x-linked intellectual disability snyder type	9.5	TBL1X EPRS1
8	eye disease	9.2	MYC EPRS1 E2F4 E2F1
9	retinoblastoma	9.0	TOP2A MYC E2F4 E2F1

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 3:

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Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 3

Human phenotypes related to Epilepsy, Idiopathic Generalized 3:

³¹

#	Description	HPO Source Accession
1	cutaneous photosensitivity ³¹	HP:0000992
2	seizure ³¹	HP:0001250
3	bilateral tonic-clonic seizure ³¹	HP:0002069

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
photosensitivity
seizures, myoclonic
seizures, generalized tonic-clonic (gtcs)
aura (in some instances)
eeg shows nonspecific slow-wave paroxysms

Clinical features from OMIM:

608762

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Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 3

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Genetic Tests for Epilepsy, Idiopathic Generalized 3

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Anatomical Context for Epilepsy, Idiopathic Generalized 3

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Publications for Epilepsy, Idiopathic Generalized 3

Articles related to Epilepsy, Idiopathic Generalized 3:

#	Title	Authors	PMID	Year
1	Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: identification of a putative locus on chromosome 9q32-33. ⁵⁶	Baykan B...Zara F	15101829	2004
2	Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter. ⁶¹	Wang A...MacLeod MC	11350120	2001

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Genes for Epilepsy, Idiopathic Generalized 3

Genes related to Epilepsy, Idiopathic Generalized 3 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EIG3	Epilepsy, Idiopathic Generalized, Susceptibility To 3	Genetic Locus	50	Genetic linkage ⁵⁶ Susceptibility factor ⁵⁶
2	TOP3A	DNA Topoisomerase III Alpha	Protein Coding	5.71	DISEASES inferred ¹⁵
3	E2F4	E2F Transcription Factor 4	Protein Coding	5.68	DISEASES inferred ¹⁵
4	E2F1	E2F Transcription Factor 1	Protein Coding	5.57	DISEASES inferred ¹⁵
5	RPS25	Ribosomal Protein S25	Protein Coding	5.48	DISEASES inferred ¹⁵
6	BMERB1	BMERB Domain Containing 1	Protein Coding	4.81	DISEASES inferred ¹⁵
7	CHIT1	Chitinase 1	Protein Coding	4.6	DISEASES inferred ¹⁵
8	MLST8	MTOR Associated Protein, LST8 Homolog	Protein Coding	4.59	DISEASES inferred ¹⁵
9	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	4.3	DISEASES inferred ¹⁵
10	TOP2A	DNA Topoisomerase II Alpha	Protein Coding	4.16	DISEASES inferred ¹⁵
11	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	4.12	DISEASES inferred ¹⁵
12	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	3.98	DISEASES inferred ¹⁵
13	FOLH1	Folate Hydrolase 1	Protein Coding	3.81	DISEASES inferred ¹⁵

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Variations for Epilepsy, Idiopathic Generalized 3

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Expression for Epilepsy, Idiopathic Generalized 3

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 3.

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Pathways for Epilepsy, Idiopathic Generalized 3

Pathways related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.19	TOP3A TBL1X RPS25 MYC MLST8 EPRS1
2	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.34	MYC EPRS1 E2F4 E2F1
3	Mitotic G1-G1/S phases ⁶⁵ Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶⁵	12.19	TOP2A MYC E2F4 E2F1
4	Cell cycle ³⁶ ¹	12.07	MYC E2F4 E2F1
5	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	11.93	MYC E2F4 E2F1
6	Cellular senescence (KEGG) ³⁶	11.85	MYC E2F4 E2F1
7	MAPK Signaling: Mitogens ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	11.81	MYC MLST8 E2F4 E2F1
8	Glioblastoma Multiforme ⁶³	11.63	MYC E2F4 E2F1
9	Retinoblastoma (RB) in Cancer ¹	11.38	TOP2A MYC E2F1
10	LKB1 signaling events ¹	11.17	MYC MLST8
11	Gastric Cancer Network 2 ¹	11.04	TOP2A MYC
12	E2F transcription factor network ¹	11	MYC E2F4 E2F1
13	MNAR-PELP1 and Estrogen Receptor Interaction ⁶³	10.86	E2F4 E2F1
14	Inhibition of Ribosome Biogenesis by p14(ARF) ⁶³	10.8	MYC E2F1
15	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁵ G2 Phase ⁶⁵	10.73	TOP2A E2F4 E2F1

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GO Terms for Epilepsy, Idiopathic Generalized 3

Cellular components related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.23	TOP3A TOP2A TBL1X RPS25 MYC MLST8

Biological processes related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	9.72	TOP2A TBL1X MYC E2F4 E2F1
2	metabolic process	GO:0008152	9.33	FOLH1 EPRS1 CHIT1
3	regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:0000083	9.26	E2F4 E2F1
4	positive regulation of glial cell proliferation	GO:0060252	8.96	MYC E2F1
5	DNA topological change	GO:0006265	8.62	TOP3A TOP2A

Molecular functions related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor binding	GO:0008134	9.46	TBL1X MYC E2F4 E2F1
2	protein dimerization activity	GO:0046983	9.43	MYC E2F4 E2F1
3	DNA topoisomerase activity	GO:0003916	8.96	TOP3A TOP2A
4	bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding	GO:0001216	8.62	E2F4 E2F1

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Sources for Epilepsy, Idiopathic Generalized 3

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⁷⁴ Wikipedia

Epilepsy, Idiopathic Generalized 3 (EIG3)

Aliases & Classifications for Epilepsy, Idiopathic Generalized 3

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Idiopathic Generalized 3

Related Diseases for Epilepsy, Idiopathic Generalized 3

Diseases in the Epilepsy, Idiopathic Generalized family:

Diseases related to Epilepsy, Idiopathic Generalized 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 3:

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 3

Human phenotypes related to Epilepsy, Idiopathic Generalized 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 3

Genetic Tests for Epilepsy, Idiopathic Generalized 3

Anatomical Context for Epilepsy, Idiopathic Generalized 3

Publications for Epilepsy, Idiopathic Generalized 3

Articles related to Epilepsy, Idiopathic Generalized 3:

Genes for Epilepsy, Idiopathic Generalized 3

Genes related to Epilepsy, Idiopathic Generalized 3 (1 elite genes):

Variations for Epilepsy, Idiopathic Generalized 3

Expression for Epilepsy, Idiopathic Generalized 3

Pathways for Epilepsy, Idiopathic Generalized 3

Pathways related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

GO Terms for Epilepsy, Idiopathic Generalized 3

Cellular components related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

Biological processes related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

Molecular functions related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

Sources for Epilepsy, Idiopathic Generalized 3