MCID: MYC023
MIFTS: 24

Myoclonic Astatic Epilepsy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Myoclonic Astatic Epilepsy

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Aliases & Descriptions for Myoclonic Astatic Epilepsy:

Name: Myoclonic Astatic Epilepsy 45 47 65
Epilepsy with Myoclonic-Astatic Seizures 45
 
Epilepsy with Myoclono-Astatic Crisis 45
Doose Syndrome 45

Classifications:



External Ids:

UMLS65 C0393702

Summaries for Myoclonic Astatic Epilepsy

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Wikipedia:68 Myoclonic astatic epilepsy, also known as Doose syndrome, is a generalized idiopathic epilepsy. It is... more...

MalaCards based summary: Myoclonic Astatic Epilepsy, also known as epilepsy with myoclonic-astatic seizures, is related to scn1a-related myoclonic-astatic epilepsy and myoclonic-astastic epilepsy. An important gene associated with Myoclonic Astatic Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways is Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include heart, spinal cord and lung.

Related Diseases for Myoclonic Astatic Epilepsy

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Graphical network of the top 20 diseases related to Myoclonic Astatic Epilepsy:



Diseases related to myoclonic astatic epilepsy

Symptoms for Myoclonic Astatic Epilepsy

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Drugs & Therapeutics for Myoclonic Astatic Epilepsy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myoclonic Astatic Epilepsy

Genetic Tests for Myoclonic Astatic Epilepsy

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Anatomical Context for Myoclonic Astatic Epilepsy

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MalaCards organs/tissues related to Myoclonic Astatic Epilepsy:

33
Heart, Spinal cord, Lung, Neutrophil, Breast, Endothelial, Prostate

Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Myoclonic Astatic Epilepsy

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Articles related to Myoclonic Astatic Epilepsy:

(show all 43)
idTitleAuthorsYear
1
Concentration of Smaller High-Density Lipoprotein Particle (HDL-P) Is Inversely Correlated With Carotid Intima Media Thickening After Confounder Adjustment: The Multi Ethnic Study of Atherosclerosis (MESA). (27207961)
2016
2
PCBP2 Modulates Neural Apoptosis and Astrocyte Proliferation After Spinal Cord Injury. (27209304)
2016
3
Suppressing TGFI^ signaling in regenerating epithelia in an inflammatory microenvironment is sufficient to cause invasive intestinal cancer. (25687406)
2015
4
Disruption of the autoinhibited state primes the E3 ligase parkin for activation and catalysis. (26254304)
2015
5
Bilateral Sequential Dacryocystitis in a Patient With Graft-Versus-Host Disease. (25192327)
2014
6
Anterior ischemic optic neuropathy in pediatric peritoneal dialysis: risk factors and therapy. (24488506)
2014
7
PIASxI+ ligase enhances SUMO1 modification of PTEN protein as a SUMO E3 ligase. (24344134)
2014
8
Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis. (24101165)
2013
9
The importance of fecaliths in the aetiology of acute appendicitis. (23294954)
2012
10
Kinase suppressor of Ras 2 is involved in regulation of cell proliferation and is up-regulated in human invasive ductal carcinomas of breast. (21403620)
2010
11
GABA-B(1) receptors are coupled to the ERK1/2 MAP kinase pathway in the absence of GABA-B(2) subunits. (19052921)
2009
12
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. (18665195)
2009
13
Human affection exchange: XIV. Relational affection predicts resting heart rate and free cortisol secretion during acute stress. (17348430)
2007
14
Fibrinogen and fibrin: scaffold proteins in hemostasis. (17414213)
2007
15
Endovascular repair of dissecting thoracic aortic aneurysm in a patient with Turner syndrome. (17042655)
2006
16
Sulfate transport by SLC26 transporters. (17120760)
2006
17
Gallbladder cancer in India: a dismal picture. (15683437)
2005
18
Roles of oxidative stress and antioxidant therapy in chronic kidney disease and hypertension. (15090865)
2004
19
Arterial thoracic outlet syndrome. (15005392)
2004
20
Biology and therapeutic advances for pediatric osteosarcoma. (15266096)
2004
21
Direct interaction of major histocompatibility complex class II-derived peptides with class Ia phosphoinositide 3-kinase results in dose-dependent stimulatory effects. (14660637)
2004
22
The Fas system in the seminiferous epithelium and its possible extra-testicular role. (12558530)
2003
23
Modeling of reaction kinetics for reactor selection in the case of L-erythrulose synthesis. (14505172)
2003
24
Effective gene transfer to human melanomas via integrin-targeted adenoviral vectors. (11916485)
2002
25
Increase in doxorubicin cytotoxicity by inhibition of P-glycoprotein activity with lomerizine. (11379779)
2001
26
New nonsteroidal steroid 5 alpha-reductase inhibitors. Syntheses and structure-activity studies on carboxamide phenylalkyl-substituted pyridones and piperidones. (10863799)
2000
27
Nitric-oxide synthase is a mechanical signal transducer that modulates talin and vinculin expression. (10551887)
1999
28
Spectrum of mutations in alpha-mannosidosis. (9915946)
1999
29
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. (9566388)
1998
30
Growth effects of alpha-interferon but not of bombesin or angiotensin II are mediated by activation of STAT proteins. (9650014)
1998
31
Lymphangioleiomyomatosis: recurrence after single lung transplantation. (9416700)
1997
32
Synergistic regulation of m2 muscarinic acetylcholine receptor desensitization and sequestration by G protein-coupled receptor kinase-2 and beta-arrestin-1. (9228066)
1997
33
Histochemical evaluation of placental angiotensinase A in pre-eclampsia: enzyme activity in villous trophoblast indicates an enhanced likelihood of gestational proteinuric hypertension. (8730885)
1996
34
Effects of tamoxifen on cardiovascular risk factors in postmenopausal women after 5 years of treatment. (7932809)
1994
35
A developmentally regulated basic-leucine zipper-like gene and its expression in embryonic retina and lens. (8108415)
1994
36
Evaluation of serum prostate-specific antigen velocity after radical prostatectomy to distinguish local recurrence from distant metastases. (7513108)
1994
37
Thrombin-induced expression of endothelial P-selectin and intercellular adhesion molecule-1: a mechanism for stabilizing neutrophil adhesion. (1385447)
1992
38
Hirschsprung's disease and idiopathic megacolon in adults and adolescents. (3699562)
1986
39
Childhood cervical adenitis. (6720492)
1984
40
An attempt to produce hypersplenism in the dog, using methylcellulose. (13784140)
1961
41
Surgical Repair of Ruptured Aneurysm of Sinus of Valsalva in Two Patients. (17859640)
1960
42
Kyphoscoliotic heart disease complicating pregnancy. (13040401)
1953
43
Optokinetic and other factors modifying vestibular nystagmus. (20293688)
1947

Variations for Myoclonic Astatic Epilepsy

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Expression for genes affiliated with Myoclonic Astatic Epilepsy

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Search GEO for disease gene expression data for Myoclonic Astatic Epilepsy.

Pathways for genes affiliated with Myoclonic Astatic Epilepsy

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Pathways related to Myoclonic Astatic Epilepsy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3GRIN2B, SCN1A

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

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Sources for Myoclonic Astatic Epilepsy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet