MCID: MYC023
MIFTS: 30

Myoclonic Astatic Epilepsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Myoclonic Astatic Epilepsy

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Wikipedia:63 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 myoclonic-astatic epilepsy in early childhood, is related to lennox-gastaut syndrome and dravet syndrome. An important gene associated with Myoclonic Astatic Epilepsy is CHD2 (chromodomain helicase DNA binding protein 2), and among its related pathways are Circadian entrainment and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The compounds phosphatidylinositol and phenytoin have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are nervous system and behavior/neurological.

Aliases & Classifications for Myoclonic Astatic Epilepsy

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Sources:
41NIH Rare Diseases, 43Novoseek, 60UMLS, 47Orphanet, 26ICD10 via Orphanet
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Myoclonic Astatic Epilepsy, Aliases & Descriptions:

Name: Myoclonic Astatic Epilepsy 41 43 60
Myoclonic-Astatic Epilepsy in Early Childhood 41 47
Epilepsy with Myoclonic-Astatic Seizures 41 47
Epilepsy with Myoclonic-Atonic Seizures 41 47
Myoclonic-Astastic Epilepsy 41 47
 
Myoclonic Atonic Epilepsy 41 47
Doose Syndrome 41 47
Emas 41 47
Mae 41 47
Epilepsy with Myoclono-Astatic Crisis 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47

External Ids:

Orphanet47 1942
ICD10 via Orphanet26 G40.4

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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Drug clinical trials:

Search ClinicalTrials for Myoclonic Astatic Epilepsy

Search 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:

31
Eye

Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5SLC2A1, GRIN2B, SCN1A
2MP:00053868.0SCN1A, CHD2, GRIN2B, SLC2A1
3MP:00053787.9SCN1A, SLC2A1, GRIN2B, CHD2
4MP:00107687.7SLC2A1, SCN1A, CHD2, GRIN2B

Publications for Myoclonic Astatic Epilepsy

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Articles related to Myoclonic Astatic Epilepsy:

(show all 41)
idTitleAuthorsYear
1
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. (25455059)
2015
2
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. (25884503)
2015
3
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. (25022865)
2014
4
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). (24696509)
2014
5
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - Differences from those in myoclonic-astatic epilepsy. (24731746)
2014
6
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? (23159713)
2013
7
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. (24055341)
2013
8
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. (23643463)
2013
9
Myoclonic astatic epilepsy and the use of the ketogenic diet. (21632215)
2012
10
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). (22266062)
2012
11
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. (22342656)
2012
12
Dissecting the genetic basis of myoclonic-astatic epilepsy. (22780699)
2012
13
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (21555602)
2011
14
Myoclonic astatic epilepsy and the role of the ketogenic diet. (21710920)
2011
15
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. (21873030)
2011
16
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. (20722665)
2010
17
A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. (18210862)
2008
18
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. (17651420)
2007
19
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. (17275664)
2007
20
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. (17105462)
2006
21
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). (17105463)
2006
22
Ketogenic diet in patients with myoclonic-astatic epilepsy. (16793577)
2006
23
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. (16987744)
2006
24
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. (15944908)
2005
25
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. (15508920)
2005
26
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. (15508921)
2005
27
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. (15351021)
2004
28
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. (14642997)
2003
29
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). (14734934)
2003
30
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. (14597780)
2003
31
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. (12200741)
2002
32
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. (12060020)
2002
33
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (11701287)
2001
34
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. (10463847)
1999
35
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. (1418481)
1992
36
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). (1396420)
1992
37
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. (1762246)
1991
38
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). (1762225)
1991
39
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. (2512119)
1989
40
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. II. Cluster analysis of the power spectra. (6791045)
1981
41
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. I. EEG and clinical data. (6789224)
1981

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GRIN2B, SCN1A
2
Show member pathways
9.3GRIN2B, SCN1A

Compounds for genes affiliated with Myoclonic Astatic Epilepsy

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Sources:
43Novoseek, 49PharmGKB, 28IUPHAR, 12DrugBank, 24HMDB
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Compounds related to Myoclonic Astatic Epilepsy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol439.1SLC2A1, GRIN2B
2phenytoin43 49 28 1212.0SLC2A1, SCN1A
3clozapine43 28 49 1212.0SLC2A1, GRIN2B
4dopamine43 28 24 1211.8SLC2A1, GRIN2B

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

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Products for genes affiliated with Myoclonic Astatic Epilepsy

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Sources for Myoclonic Astatic Epilepsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet