MCID: MYC023
MIFTS: 28

Myoclonic Astatic Epilepsy malady

Genetic diseases, Rare diseases categories

Summaries for Myoclonic Astatic Epilepsy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Myoclonic astatic epilepsy, also known as Doose syndrome, is a generalized idiopathic epilepsy. It is... more...

MalaCards: Myoclonic Astatic Epilepsy, also known as epilepsy with myoclonic-astatic seizures, is related to lennox-gastaut syndrome and scn1a-related myoclonic-astatic epilepsy. An important gene associated with Myoclonic Astatic Epilepsy is SCN1A (sodium channel, voltage-gated, type I, alpha subunit), and among its related pathways are Circadian entrainment and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The compounds clozapine and glutamate have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Aliases & Classifications for Myoclonic Astatic Epilepsy

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44NIH Rare Diseases, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

myoclonic astatic epilepsy 44 46 63
epilepsy with myoclonic-astatic seizures 44
epilepsy with myoclono-astatic crisis 44
doose syndrome 44


Related Diseases for Myoclonic Astatic Epilepsy

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18GeneCards, 19GeneDecks
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Diseases in the Myoclonic Astatic Epilepsy family:

Scn1a-Related Myoclonic-Astatic Epilepsy

Diseases related to Myoclonic Astatic Epilepsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1lennox-gastaut syndrome10.6
2scn1a-related myoclonic-astatic epilepsy10.5
3myoclonus10.5
4status epilepticus10.3
5dravet syndrome10.3
6idiopathic generalized epilepsy10.3
7sturge-weber syndrome10.3
8weber syndrome10.3
9myoclonic-astastic epilepsy10.3
10schizophrenia10.0SLC2A1, GRIN2B
11brain disease9.9SLC2A1, SCN1A
12epilepsy syndrome9.9SLC2A1, GRIN2B, SCN1A

Graphical network of 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Myoclonic Astatic Epilepsy

Search CenterWatch for Myoclonic Astatic Epilepsy

Genetic Tests for Myoclonic Astatic Epilepsy

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Anatomical Context for Myoclonic Astatic Epilepsy

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34MalaCards
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MalaCards organs/tissues related to Myoclonic Astatic Epilepsy:

34
Eye

Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1SLC2A1, GRIN2B
2MP:00053868.6GRIN2B, SLC2A1, SCN1A
3MP:00036318.5SCN1A, GRIN2B, SLC2A1
4MP:00053788.4SLC2A1, GRIN2B, SCN1A
5MP:00107688.2SLC2A1, SCN1A, GRIN2B

Publications for Myoclonic Astatic Epilepsy

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53PubMed
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Articles related to Myoclonic Astatic Epilepsy:

(show all 36)
idTitleAuthorsYear
1
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? (23159713)
2013
2
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. (24055341)
2013
3
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. (23643463)
2013
4
Myoclonic astatic epilepsy and the use of the ketogenic diet. (21632215)
2012
5
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). (22266062)
2012
6
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. (22342656)
2012
7
Dissecting the genetic basis of myoclonic-astatic epilepsy. (22780699)
2012
8
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (21555602)
2011
9
Myoclonic astatic epilepsy and the role of the ketogenic diet. (21710920)
2011
10
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. (21873030)
2011
11
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. (20722665)
2010
12
A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. (18210862)
2008
13
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. (17651420)
2007
14
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. (17275664)
2007
15
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. (17105462)
2006
16
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). (17105463)
2006
17
Ketogenic diet in patients with myoclonic-astatic epilepsy. (16793577)
2006
18
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. (16987744)
2006
19
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. (15944908)
2005
20
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. (15508920)
2005
21
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. (15508921)
2005
22
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. (15351021)
2004
23
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. (14642997)
2003
24
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). (14734934)
2003
25
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. (14597780)
2003
26
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. (12200741)
2002
27
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. (12060020)
2002
28
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (11701287)
2001
29
Myoclonic-astatic epilepsy. (1418479)
1992
30
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. (1418481)
1992
31
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). (1396420)
1992
32
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. (1762246)
1991
33
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). (1762225)
1991
34
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. (2512119)
1989
35
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. II. Cluster analysis of the power spectra. (6791045)
1981
36
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myoclonic Astatic Epilepsy

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

Pathways for genes affiliated with Myoclonic Astatic Epilepsy

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51PathCards, 31KEGG, 54QIAGEN
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Pathways related to Myoclonic Astatic Epilepsy according to GeneCards/GeneDecks:

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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46Novoseek, 30IUPHAR, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Myoclonic Astatic Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1clozapine46 30 52 1212.1GRIN2B, SLC2A1
2glutamate469.1GRIN2B, SLC2A1
3phenytoin46 52 30 1212.1SCN1A, SLC2A1
4dopamine46 30 25 1212.0GRIN2B, SLC2A1
5phosphatidylinositol468.8GRIN2B, SLC2A1

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myoclonic Astatic Epilepsy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet