MCID: MYC068
MIFTS: 31

Myoclonic Epilepsy of Infancy malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Myoclonic Epilepsy of Infancy

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Sources:
51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 51
Benign Myoclonic Epilepsy of Infancy 51
 
Benign Myoclonus Epilepsy of Infancy 51

Characteristics:

Orphanet epidemiological data:

51
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

Orphanet51 86909
ICD10 via Orphanet28 G40.3
UMLS via Orphanet66 C0751120, C0917800

Summaries for Myoclonic Epilepsy of Infancy

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MalaCards based summary: Myoclonic Epilepsy of Infancy, also known as benign myoclonic epilepsy of infancy, is related to generalized epilepsy with febrile seizures plus and dravet syndrome. An important gene associated with Myoclonic Epilepsy of Infancy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways are L1CAM interactions and Phase 1 - inactivation of fast Na+ channels. Affiliated tissues include lung, brain and lymph node.

Related Diseases for Myoclonic Epilepsy of Infancy

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Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Myoclonic, Familial Adult, 5 Epilepsy, Myoclonic, Familial Adult, 2
Epilepsy, Progressive Myoclonic 5 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Myoclonic Epilepsy, Juvenile 1
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic, 9 Epilepsy, Progressive Myoclonic, 8
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Gabra1-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Scn1a-Related Severe Myoclonic Epilepsy in Infancy Benign Adult Familial Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic 10

Diseases related to Myoclonic Epilepsy of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1generalized epilepsy with febrile seizures plus30.6SCN1A, SCN8A
2dravet syndrome12.2
3gabrg2-related dravet syndrome11.6
4epilepsy, generalized, with febrile seizures plus, type 210.4
5pheochromocytoma10.3
6prostatitis10.3
7prostate cancer10.2
8hepatocellular carcinoma10.2
9leigh syndrome10.2
10obesity10.2
11osteoporosis10.2
12celiac disease10.2
13obsessive-compulsive disorder10.2
14hemochromatosis10.2
15hemangioma10.2
16hepatitis10.2
17hereditary spastic paraplegia10.2
18leukemia10.2
19paroxysmal nocturnal hemoglobinuria10.2
20paraganglioma10.2
21hepatocellular adenoma10.2
22chronic leukemia10.2
23intraductal papilloma10.2
24prostate adenocarcinoma10.2
25cervicitis10.2
26papilloma10.2
27endometriosis10.2
28adenocarcinoma10.2
29retinitis10.2
30pancreatitis10.2
31chronic salpingitis10.2
32salpingitis10.2
33hemoglobinuria10.2
34paraplegia10.2
35adenoma10.2
36duodenitis10.2
37meningitis10.2
38duodenal atresia10.2
39fetal macrosomia10.2
40glioma10.2
41phace syndrome10.2
42angiomatosis10.2
43neurosarcoidosis10.2
44spasticity10.2
45endotheliitis10.2
46solitary fibrous tumor10.2
47meningococcal meningitis10.2
48copper deficiency, familial benign10.0GABRG2, SCN1A
49floppy infant syndrome9.9GABRG2, SCN1A
50cystic lymphangioma9.9GABRG2, SCN1A

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



Diseases related to myoclonic epilepsy of infancy

Symptoms for Myoclonic Epilepsy of Infancy

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Drugs & Therapeutics for Myoclonic Epilepsy of Infancy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetics of Severe Early Onset EpilepsiesRecruitingNCT01858285

Search NIH Clinical Center for Myoclonic Epilepsy of Infancy

Genetic Tests for Myoclonic Epilepsy of Infancy

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Anatomical Context for Myoclonic Epilepsy of Infancy

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MalaCards organs/tissues related to Myoclonic Epilepsy of Infancy:

33
Lung, Brain, Lymph node, Liver, Ovary, Endothelial, Breast

Animal Models for Myoclonic Epilepsy of Infancy or affiliated genes

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Publications for Myoclonic Epilepsy of Infancy

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Articles related to Myoclonic Epilepsy of Infancy:

(show all 44)
idTitleAuthorsYear
1
T-705 as a potential therapeutic in rabies. (27190188)
2016
2
F-actin flow drives affinity maturation and spatial organization of LFA-1 at the immunological synapse. (25666810)
2015
3
Hsa-miR-30d, secreted by the human endometrium, is taken up by the pre-implantation embryo and might modify its transcriptome. (26395145)
2015
4
Transgene expression study of CXCR4 active mutants. Potential prospects in up-modulation of homing and engraftment efficiency of hematopoietic stem/progenitor cells. (25482641)
2014
5
Brain sonography in African infants with complicated sporadic bacterial meningitis. (24403710)
2013
6
Bladder pain syndrome/interstitial cystitis: present and future treatment perspectives. (24091479)
2013
7
Overweight and obesity adversely affect outcomes of assisted reproductive technologies in polycystic ovary syndrome patients. (24260609)
2013
8
Evidence of West Nile virus lineage 2 circulation in Northern Italy. (22406344)
2012
9
Predicative value of expression of TrkB and TRIM29 in biopsy tissues from preoperative gastroscopy in lymph node metastasis of gastric cancer]. (22490895)
2012
10
Matrix-assisted laser desorption/ionization mass spectrometry reveals decreased calcylcin expression in small cell lung cancer. (22192801)
2012
11
The diagnostic significance of serum IgG4 levels in patients with autoimmune pancreatitis: a UK study. (21287719)
2011
12
Multiple mycobacterial antigens are targets of the adaptive immune response in pulmonary sarcoidosis. (21092305)
2010
13
The association of interleukin-1alpha and interleukin-1beta polymorphisms with the risk of Graves' disease in a case-control study and meta-analysis. (20116409)
2010
14
Association between osteoprotegerin gene polymorphism and bone mineral density in patients with adolescent idiopathic scoliosis. (19705167)
2009
15
Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. (19416237)
2009
16
Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon? (18382203)
2008
17
Identification of proteins secreted from leptin stimulated MCF-7 breast cancer cells: a dual proteomic approach. (18408141)
2008
18
Association of genetic polymorphisms in endothelial nitric oxide synthase 3 gene with recurrent early spontaneous abortion]. (17285538)
2007
19
No association between SNP309 promoter polymorphism in the MDM2 and cervical cancer in a study from northeastern Brazil. (18023538)
2007
20
Molecular characterization, 3D modelling and expression analysis of sea bass (Dicentrarchus labrax L.) interleukin-10. (17049605)
2007
21
Human agonistic TRAIL receptor antibodies Mapatumumab and Lexatumumab induce apoptosis in malignant mesothelioma and act synergistically with cisplatin. (17953743)
2007
22
Comparison of Pycnogenol and Daflon in treating chronic venous insufficiency: a prospective, controlled study. (16708123)
2006
23
Eradication of Helicobacter pylori reduced the immunohistochemical detection of p53 and MDM2 in gastric mucosa. (15946145)
2005
24
Acromegaly and serum insulin-like growth factor I. (15761230)
2004
25
Further evidence for the mediation of both subtypes of dopamine D1/D2 receptors and cerebral neuropeptide Y (NPY) in amphetamine-induced appetite suppression. (14659580)
2003
26
Extralobar infradiaphragmatic pulmonary sequestration with a digestive communication. (11782775)
2002
27
Expression of human telomerase RNA component and telomerase reverse transcriptase mRNA in atypical adenomatous hyperplasia of the lung. (12196920)
2002
28
Thrombospondin-1 and -2 messenger RNA expression in epithelial ovarian tumor. (11712798)
2001
29
The role of the urokinase-type plasminogen activator (uPA) and its receptor (CD87) in lipodermatosclerosis. (11401675)
2001
30
Differential inhibition of growth hormone secretion by analogs selective for somatostatin receptor subtypes 2 and 5 in human growth-hormone-secreting adenoma cells in vitro. (11399907)
2001
31
Expression of nitric oxide synthase in gastric cancer. (10529016)
1999
32
Colorectal adenomas and the C677T MTHFR polymorphism: evidence for gene-environment interaction? (10744125)
1999
33
Effects of recombinant neutral endopeptidase (EC 3.4.24.11) on the growth of lung cancer cell lines in vitro and in vivo. (9829752)
1998
34
Organization and regulatory aspects of the human intestinal mucin gene (MUC2) locus. (9065467)
1997
35
Characterization of a replication-incompetent adenovirus type 5 mutant deleted for the preterminal protein gene. (8962115)
1996
36
Co-expression of laminin and a 67 kDa laminin-binding protein in teratocarcinoma embryoid bodies. (8074991)
1994
37
Abnormalities of hemostasis in ischemic stroke. (8419725)
1993
38
Central serotonergic changes following antidepressant treatment: a neuroendocrine assessment. (8290659)
1993
39
Clinical usefulness of malate dehydrogenase and its mitochondrial isoenzyme in comparison with aspartate aminotransferase and its mitochondrial isoenzyme in sera of patients with liver disease. (2171815)
1990
40
Achondroplasia--a clinician's viewpoint. (3071356)
1988
41
Optimal management of cloacal exstrophy. (6620075)
1983
42
Discitis--a rare early symptom of ankylosing spondylitis. (7274303)
1981
43
Serum concentrations of haptoglobin and hemopexin in favism and thalassemia. (4214606)
1974
44
Meningococcemia without meningitis presenting as cardiac tamponade. Survival with disseminated intravascular coagulation. (5120545)
1971

Variations for Myoclonic Epilepsy of Infancy

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Expression for genes affiliated with Myoclonic Epilepsy of Infancy

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Search GEO for disease gene expression data for Myoclonic Epilepsy of Infancy.

Pathways for genes affiliated with Myoclonic Epilepsy of Infancy

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Pathways related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1SCN1A, SCN8A
2
Show member pathways
9.1SCN1A, SCN8A
39.1SCN1A, SCN8A

GO Terms for genes affiliated with Myoclonic Epilepsy of Infancy

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Biological processes related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuronal action potentialGO:00192289.6SCN1A, SCN8A
2membrane depolarization during action potentialGO:00860109.3SCN1A, SCN8A
3transmembrane transportGO:00550858.5GABRG2, SCN1A, SCN8A

Sources for Myoclonic Epilepsy of Infancy

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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