MCID: MYC023
MIFTS: 29

Myoclonic Astatic Epilepsy malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Myoclonic Astatic Epilepsy

About this section


Fully expand this MalaCard
Wikipedia:65 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 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

About this section
Sources:
42NIH Rare Diseases, 44Novoseek, 62UMLS
See all sources

Myoclonic Astatic Epilepsy, Aliases & Descriptions:

Name: Myoclonic Astatic Epilepsy 42 44 62
Epilepsy with Myoclonic-Astatic Seizures 42 62
 
Epilepsy with Myoclono-Astatic Crisis 42
Doose Syndrome 42


Classifications:

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


Related Diseases for Myoclonic Astatic Epilepsy

About this section

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 14)
idRelated DiseaseScoreTop Affiliating Genes
1lennox-gastaut syndrome10.6
2scn1a-related myoclonic-astatic epilepsy10.5
3myoclonus10.5
4diabetes mellitus10.3
5type 1 diabetes mellitus10.3
6status epilepticus10.3
7dravet syndrome10.3
8idiopathic generalized epilepsy10.3
9sturge-weber syndrome10.3
10weber syndrome10.3
11myoclonic-astastic epilepsy10.3
12schizophrenia9.9SLC2A1, GRIN2B
13brain disease9.7SLC2A1, SCN1A
14epilepsy syndrome9.6SLC2A1, GRIN2B, SCN1A

Graphical network of diseases related to Myoclonic Astatic Epilepsy:



Diseases related to myoclonic astatic epilepsy

Symptoms for Myoclonic Astatic Epilepsy

About this section

Drugs & Therapeutics for Myoclonic Astatic Epilepsy

About this section

Drug clinical trials:

Search ClinicalTrials for Myoclonic Astatic Epilepsy

Search NIH Clinical Center for Myoclonic Astatic Epilepsy

Genetic Tests for Myoclonic Astatic Epilepsy

About this section

Anatomical Context for Myoclonic Astatic Epilepsy

About this section

MalaCards organs/tissues related to Myoclonic Astatic Epilepsy:

32
Eye

Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

About this section

MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1SLC2A1, GRIN2B
2MP:00053868.6SLC2A1, GRIN2B, SCN1A
3MP:00036318.5SLC2A1, GRIN2B, SCN1A
4MP:00053788.4SCN1A, GRIN2B, SLC2A1
5MP:00107688.2SLC2A1, GRIN2B, SCN1A

Publications for Myoclonic Astatic Epilepsy

About this section

Articles related to Myoclonic Astatic Epilepsy:

(show all 39)
idTitleAuthorsYear
1
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. (25022865)
2014
2
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). (24696509)
2014
3
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? (23159713)
2013
4
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. (24055341)
2013
5
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. (23643463)
2013
6
Myoclonic astatic epilepsy and the use of the ketogenic diet. (21632215)
2012
7
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). (22266062)
2012
8
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. (22342656)
2012
9
Dissecting the genetic basis of myoclonic-astatic epilepsy. (22780699)
2012
10
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (21555602)
2011
11
Myoclonic astatic epilepsy and the role of the ketogenic diet. (21710920)
2011
12
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. (21873030)
2011
13
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. (20722665)
2010
14
A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. (18210862)
2008
15
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. (17651420)
2007
16
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. (17275664)
2007
17
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. (17105462)
2006
18
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). (17105463)
2006
19
Ketogenic diet in patients with myoclonic-astatic epilepsy. (16793577)
2006
20
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. (16987744)
2006
21
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. (15944908)
2005
22
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. (15508920)
2005
23
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. (15508921)
2005
24
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. (15351021)
2004
25
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. (14642997)
2003
26
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). (14734934)
2003
27
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. (14597780)
2003
28
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. (12200741)
2002
29
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. (12060020)
2002
30
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (11701287)
2001
31
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. (10463847)
1999
32
Myoclonic-astatic epilepsy. (1418479)
1992
33
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. (1418481)
1992
34
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). (1396420)
1992
35
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. (1762246)
1991
36
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). (1762225)
1991
37
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. (2512119)
1989
38
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. II. Cluster analysis of the power spectra. (6791045)
1981
39
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

About this section

Expression for genes affiliated with Myoclonic Astatic Epilepsy

About this section
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

About this section

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

About this section
Sources:
44Novoseek, 28IUPHAR, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Myoclonic Astatic Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1clozapine44 28 50 1112.1SLC2A1, GRIN2B
2glutamate449.1SLC2A1, GRIN2B
3phenytoin44 50 28 1112.1SLC2A1, SCN1A
4dopamine44 28 24 1112.0GRIN2B, SLC2A1
5phosphatidylinositol448.8SLC2A1, GRIN2B

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

About this section

Products for genes affiliated with Myoclonic Astatic Epilepsy

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Myoclonic Astatic Epilepsy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet