MCID: MYC023
MIFTS: 25

Myoclonic Astatic Epilepsy malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Myoclonic Astatic Epilepsy

Aliases & Descriptions for Myoclonic Astatic Epilepsy:

Name: Myoclonic Astatic Epilepsy 50 52 69
Epilepsy with Myoclonic-Astatic Seizures 50
Epilepsy with Myoclono-Astatic Crisis 50
Doose Syndrome 50

Classifications:



Summaries for Myoclonic Astatic Epilepsy

MalaCards based summary : Myoclonic Astatic Epilepsy, also known as epilepsy with myoclonic-astatic seizures, is related to idiopathic generalized epilepsy and scn1a-related myoclonic-astatic epilepsy. An important gene associated with Myoclonic Astatic Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Circadian entrainment and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drug Dronabinol has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Increased shRNA abundance (Z-score > 2).

Wikipedia : 71 Myoclonic astatic epilepsy, also known as myoclonic atonic epilepsy or Doose syndrome, is a generalized... more...

Related Diseases for Myoclonic Astatic Epilepsy

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



Diseases related to Myoclonic Astatic Epilepsy

Symptoms & Phenotypes for Myoclonic Astatic Epilepsy

GenomeRNAi Phenotypes related to Myoclonic Astatic Epilepsy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.97 GRIN2B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.97 SLC2A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.97 SLC2A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.97 GRIN2B SLC2A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.97 GRIN2B SLC2A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.97 SCN1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.97 SCN1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.97 GRIN2B SCN1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.97 GRIN2B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.97 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.97 SCN1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.97 SLC2A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.97 SLC2A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.97 GRIN2B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.97 GRIN2B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.97 SLC2A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.97 SLC2A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.97 SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.97 SCN1A
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.61 GRIN2B
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.61 GRIN2B
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.61 GRIN2B SCN1A
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.61 GRIN2B
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.61 SCN1A
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.61 SCN1A
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.61 SCN1A
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.61 SCN1A

Drugs & Therapeutics for Myoclonic Astatic Epilepsy

Drugs for Myoclonic Astatic Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078 2978

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1

Search NIH Clinical Center for Myoclonic Astatic Epilepsy

Genetic Tests for Myoclonic Astatic Epilepsy

Anatomical Context for Myoclonic Astatic Epilepsy

MalaCards organs/tissues related to Myoclonic Astatic Epilepsy:

39
Eye

Publications for Myoclonic Astatic Epilepsy

Articles related to Myoclonic Astatic Epilepsy:

(show all 46)
id Title Authors Year
1
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. ( 27665729 )
2017
2
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. ( 26818399 )
2016
3
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. ( 26537434 )
2015
4
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. ( 25884503 )
2015
5
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. ( 26625664 )
2015
6
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. ( 25455059 )
2015
7
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - Differences from those in myoclonic-astatic epilepsy. ( 24731746 )
2014
8
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). ( 24696509 )
2014
9
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. ( 25022865 )
2014
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
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? ( 23159713 )
2013
13
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). ( 22266062 )
2012
14
Dissecting the genetic basis of myoclonic-astatic epilepsy. ( 22780699 )
2012
15
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. ( 22342656 )
2012
16
Myoclonic astatic epilepsy and the use of the ketogenic diet. ( 21632215 )
2012
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
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. ( 21873030 )
2011
20
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. ( 20722665 )
2010
21
[A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. ( 18210862 )
2008
22
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. ( 17651420 )
2007
23
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. ( 17275664 )
2007
24
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. ( 17105462 )
2006
25
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). ( 17105463 )
2006
26
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. ( 16987744 )
2006
27
Ketogenic diet in patients with myoclonic-astatic epilepsy. ( 16793577 )
2006
28
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. ( 15508921 )
2005
29
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. ( 15508920 )
2005
30
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. ( 15944908 )
2005
31
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. ( 15351021 )
2004
32
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. ( 14597780 )
2003
33
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. ( 14642997 )
2003
34
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). ( 14734934 )
2003
35
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. ( 12060020 )
2002
36
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. ( 12200741 )
2002
37
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). ( 11701287 )
2001
38
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. ( 10463847 )
1999
39
Myoclonic-astatic epilepsy. ( 1418479 )
1992
40
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. ( 1418481 )
1992
41
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). ( 1396420 )
1992
42
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). ( 1762225 )
1991
43
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. ( 1762246 )
1991
44
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. ( 2512119 )
1989
45
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. II. Cluster analysis of the power spectra. ( 6791045 )
1981
46
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

Copy number variations for Myoclonic Astatic Epilepsy from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 33171 1 43163632 43197434 Amplification SLC2A1 Myoclonic Astatic Epilepsy

Expression for Myoclonic Astatic Epilepsy

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

Pathways for Myoclonic Astatic Epilepsy

Pathways related to Myoclonic Astatic Epilepsy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 GRIN2B SCN1A
2
Show member pathways
11.55 GRIN2B SCN1A
3 11.13 GRIN2B SCN1A

GO Terms for Myoclonic Astatic Epilepsy

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.33 GRIN2B SCN1A SLC2A1
2 ion transmembrane transport GO:0034220 8.96 GRIN2B SCN1A
3 regulation of ion transmembrane transport GO:0034765 8.62 GRIN2B SCN1A

Molecular functions related to Myoclonic Astatic Epilepsy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.62 GRIN2B SCN1A

Sources for Myoclonic Astatic Epilepsy

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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