MCID: MYC023
MIFTS: 22

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 46 48 66
Epilepsy with Myoclonic-Astatic Seizures 46
 
Epilepsy with Myoclono-Astatic Crisis 46
Doose Syndrome 46

Classifications:



Summaries for Myoclonic Astatic Epilepsy

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Wikipedia:69 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 epilepsy and scn1a-related myoclonic-astatic epilepsy, and has symptoms including seizures An important gene associated with Myoclonic Astatic Epilepsy is SLC2A1 (Solute Carrier Family 2 Member 1), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. Affiliated tissues include eye.

Related Diseases for Myoclonic Astatic Epilepsy

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Graphical network of diseases related to Myoclonic Astatic Epilepsy:



Diseases related to myoclonic astatic epilepsy

Symptoms for Myoclonic Astatic Epilepsy

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UMLS symptoms related to Myoclonic Astatic Epilepsy:


seizures

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:

34
Eye

Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

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Publications for Myoclonic Astatic Epilepsy

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Articles related to Myoclonic Astatic Epilepsy:

(show all 45)
idTitleAuthorsYear
1
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. (26818399)
2016
2
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. (25884503)
2015
3
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. (26625664)
2015
4
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. (26537434)
2015
5
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. (25455059)
2015
6
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - Differences from those in myoclonic-astatic epilepsy. (24731746)
2014
7
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. (25022865)
2014
8
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). (24696509)
2014
9
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? (23159713)
2013
10
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. (24055341)
2013
11
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. (23643463)
2013
12
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). (22266062)
2012
13
Myoclonic astatic epilepsy and the use of the ketogenic diet. (21632215)
2012
14
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. (22342656)
2012
15
Dissecting the genetic basis of myoclonic-astatic epilepsy. (22780699)
2012
16
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. (21873030)
2011
17
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (21555602)
2011
18
Myoclonic astatic epilepsy and the role of the ketogenic diet. (21710920)
2011
19
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. (20722665)
2010
20
A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. (18210862)
2008
21
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. (17275664)
2007
22
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. (17651420)
2007
23
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). (17105463)
2006
24
Ketogenic diet in patients with myoclonic-astatic epilepsy. (16793577)
2006
25
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. (17105462)
2006
26
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. (16987744)
2006
27
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. (15944908)
2005
28
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. (15508920)
2005
29
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. (15508921)
2005
30
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. (15351021)
2004
31
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. (14642997)
2003
32
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). (14734934)
2003
33
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. (14597780)
2003
34
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. (12200741)
2002
35
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. (12060020)
2002
36
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (11701287)
2001
37
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. (10463847)
1999
38
Myoclonic-astatic epilepsy. (1418479)
1992
39
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. (1418481)
1992
40
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). (1396420)
1992
41
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. (1762246)
1991
42
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). (1762225)
1991
43
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. (2512119)
1989
44
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. II. Cluster analysis of the power spectra. (6791045)
1981
45
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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Copy number variations for Myoclonic Astatic Epilepsy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13317114316363243197434AmplificationSLC2A1Myoclonic Astatic Epilepsy

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
9.1GRIN2B, SCN1A
29.1GRIN2B, SCN1A

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

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Sources for Myoclonic Astatic Epilepsy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet