MCID: MYC023
MIFTS: 25

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 48 50 68
Epilepsy with Myoclonic-Astatic Seizures 48
 
Epilepsy with Myoclono-Astatic Crisis 48
Doose Syndrome 48

Classifications:



Summaries for Myoclonic Astatic Epilepsy

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

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 are Circadian entrainment and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include eye, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Increased shRNA abundance (Z-score > 2).

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 & Phenotypes for Myoclonic Astatic Epilepsy

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.0GRIN2B, SCN1A
2GR00366-A-1926.6GRIN2B, SCN1A, GRIN2B, SLC2A1, GRIN2B, SLC2A1

Drugs & Therapeutics for Myoclonic Astatic Epilepsy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dronabinolapproved, illicitPhase 11441972-08-316078, 2978
Synonyms:
&Delta
(-)- delta 9-Tetrahydrocannabinol
(-)-.DELTA.1-Tetrahydrocannabinol
(-)-.DELTA.9-THC
(-)-.DELTA.9-Tetrahydrocannabinol
(-)-.DELTA.9-trans-Tetrahydrocannabinol
(-)-.delta.(sup9)-trans-Tetrahydrocannabinol
(-)-3,4-trans-Delta1-Tetrahydrocannabinol
(-)-delta (sup9)-trans-Tetrahydrocannabinol
(-)-delta 1-Tetrahydrocannabinol
(-)-delta 9-THC
(-)-delta 9-trans-Tetrahydrocannabinol
(-)-delta(sup 1)-3,4-trans-Tetrahydrocannabinol
(-)-delta1-Tetrahydrocannabinol
(-)-delta9-(trans)-Tetrahydrocannabinol
(-)-delta9-Tetrahydrocannabinol
(-)-delta9-trans-Tetrahydrocannabinol
(-)-trans-.DELTA.9-Tetrahydrocannabinol
(-)-trans-Delta1-Tetrahydrocannabinol
(-)-trans-Delta9-THC
(-)-trans-delta 1-Tetrahydrocannabinol
(-)-trans-delta 9-THC
(-)-trans-delta 9-Tetrahydrocannabinol
(-)-trans-delta9-Tetrahydrocannabinol
(L)-.delta.1-Tetrahydrocannabinol
(L)-delta 1-Tetrahydrocannabinol
(l)-delta(sup 1)-Tetrahydrocannabinol
(l)-delta1-Tetrahydrocannabinol
.DELTA.1-THC
.DELTA.1-Tetrahydrocannabinol
.DELTA.9-THC
.DELTA.9-trans-Tetrahydrocannabinol
.delta.(sup9)-THC
.delta.-9-THC
1-trans-.delta.(sup9)-tetrahydrocannabinol
1-trans-D9-Tetrahydrocannabinol
1-trans-delta (sup9)-tetrahydrocannabinol
1-trans-delta 9-Tetrahydrocannabinol
1-trans-delta(sup 9)-Tetrahydrocannabinol
1-trans-delta(sup9)-tetrahydrocannabinol
1-trans-delta-9-Tetrahydrocannabinol
1-trans-delta9-Tetrahydrocannabinol
1363-19-5
14146-29-3
14146-43-1
14C-.DELTA.1-Tetrahydrocannabinol
14C-delta 1-Tetrahydrocannabinol
1972-08-3
26108-45-2
3-Pentyl-6,6,9-trimethyl-6a,7,8,10a-tetrahydro-6H-dibenzo(b,D)pyran-1-ol
308064-99-5
5957-27-7
6,6,9-Trimethyl-3-pentyl-6a,7,8,10a-tetrahydro-6H-benzo[c]chromen-1-ol
6465-30-1
6H-Dibenzo
9-THC
9-delta-Tetrahydrocannabinol
9-ene-Tetrahydrocannabinol
9-tetrahydrocannabinol
AC1L277U
AC1Q2VRZ
Abbott 40566
BIDD:GT0427
C06972
CAT-310
CCRIS 4726
CHEBI:104496
CHEMBL465
CID16078
Cannabinol, Delta1-tetrahydro- (7CI)
Cannabinol, tetrahydro- (6CI)
Cannabis resin
Compassia
D00306
DB00470
DEA No. 7369
DEA No. 7370
DRG-0138
Dea No. 7369
Dea No. 7370
Delta9-Tetrahydrocannabinol solution
Deltanyne
Drona binol
Dronabinol
Dronabinol (USP/INN)
Dronabinol [USAN:INN]
 
Dronabinol [Usan:Inn]
Dronabinolum
Dronabinolum [Latin]
EPA 28
EPA-PLUS
Exocyclic delta (9)(11)-Tetrahydrocannabiol
Fats and Glyceridic oils, fish, n-3 fatty acid-high
Fish oils, n-3 fatty acid-high
Fish oils, omega-3 fatty acid-high
Ganja
HSDB 6471
Hashish
L-.delta.1-Tetrahydrocannabinol
L-.delta.1-trans-Tetrahydrocannabinol
L-delta 1-trans-Tetrahydrocannabinol
L-delta(sup 1)-tetrahydrocannabinol
L-delta1-trans-Tetrahydrocannabinol
L-trans-.delta.9-Tetrahydrocannabinol
L-trans-delta 9-Tetrahydrocannabinol
L-trans-delta9-Tetrahydrocannabinol
LS-975
Marincap
Marinol
Marinol (TN)
MaxEPA
MolPort-003-959-698
NSC 134454
NSC134454
Namisol
Omegaven
PDSP2_000714
Primolut
Pro-Mega
Promega
QCD 84924
QCD-84924
Relivar
SP 104
Sonergx
T2386_SIGMA
T4764_FLUKA
T4764_SIGMA
TETRAHYDROCANNABINOL
THC
THC-delta-9
Tetrahydrocannabinol
Tetrahydrocannabinol delta9
Tetrahydrocannabinols (-)-delta1-3,4-trans-form
Tetranabinex
UNII-7J8897W37S
ZINC01530625
delta (sup9)-Thc
delta 1-THC
delta 1-Tetrahydrocannabinol
delta 9-THC
delta 9-Tetrahydrocannabinol
delta 9-trans-Tetrahydrocannabinol
delta(1)-THC
delta(1)-Tetrahydrocannabinol
delta(9)-THC
delta(9)-Tetrahydrocannabinol
delta(9)-Tetrahydrocannibinol
delta(sup 1)-Tetrahydrocannabinol
delta(sup 1)-Thc
delta(sup 9)-Tetrahydrocannabinol
delta(sup 9)-Thc
delta-9-THC
delta-9-Tetrahydrocannabinol
delta-9-tetrahydrocannabinol
delta-THC
delta1-THC
delta1-Tetrahydrocannabinol
delta1-Tetrahydrocannabinol (VAN)
delta9-THC
delta9-Tetrahydrocannabinol
delta9-Tetrahydrocannabinol (VAN)
delta9-trans-Tetrahydrocannabinol
nchembio.129-comp1
nchembio.552-comp1
nchembio.86-comp3
omega-3-Fatty acid
trans-.DELTA.9-Tetrahydrocannabinol
trans-delta (-)-9-Tetrahydrocannabinol
trans-delta 9-Tetrahydrocannabinol
trans-delta-9-Tetrahydrocannabinol
trans-delta9-Tetrahydrocannabinol
trans-tetrahydrocannabinol
Δ9-tetrahydrocannabinol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cannabidiol in Children With Refractory Epileptic EncephalopathyRecruitingNCT03024827Phase 1

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:

36
Eye

Publications for Myoclonic Astatic Epilepsy

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Articles related to Myoclonic Astatic Epilepsy:

(show all 46)
idTitleAuthorsYear
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

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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
9.3GRIN2B, SCN1A
2
Show member pathways
9.3GRIN2B, SCN1A
39.3GRIN2B, SCN1A

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1ion transmembrane transportGO:003422010.1GRIN2B, SCN1A
2regulation of ion transmembrane transportGO:003476510.1GRIN2B, SCN1A
3transportGO:00068108.5GRIN2B, SCN1A, SLC2A1

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

idNameGO IDScoreTop Affiliating Genes
1ion channel activityGO:00052169.3GRIN2B, SCN1A

Sources for Myoclonic Astatic Epilepsy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet