MAE
MCID: MYC023
MIFTS: 25

Myoclonic Astatic Epilepsy (MAE) malady

Neuronal, Ear categories

Summaries for Myoclonic Astatic Epilepsy

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 n syndrome. 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 phenytoin have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and behavior/neurological.

Aliases & Classifications for Myoclonic Astatic Epilepsy

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Ear


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

myoclonic astatic epilepsy 43 45 61
epilepsy with myoclonic-astatic seizures 43 49
doose syndrome 43 49
myoclonic-astatic epilepsy in early childhood 49
epilepsy with myoclono-astatic crisis 43
myoclonic atonic epilepsy 49
mae 49


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ICD10 via Orphanet26 G40.4

Related Diseases for Myoclonic Astatic Epilepsy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Myoclonic Astatic Epilepsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1lennox-gastaut syndrome10.6
2n syndrome10.5
3myoclonus epilepsy10.5
4scn1a-related myoclonic-astatic epilepsy10.5
5myoclonus10.5
6status epilepticus10.3
7dravet syndrome10.3
8char syndrome10.3
9sturge-weber syndrome10.3
10weber syndrome10.3
11enterobiasis10.1
12paragonimiasis10.0
13adenoma10.0
14functioning gonadotroph adenoma10.0
15migraine10.0SCN1A
16prion disease10.0SCN1A
17brain disease10.0SLC2A1, SCN1A
18epilepsy syndrome10.0SLC2A1, GRIN2B, SCN1A

Graphical network of diseases related to Myoclonic Astatic Epilepsy:



Diseases related to myoclonic astatic epilepsy

Clinical Features for Myoclonic Astatic Epilepsy

Drugs & Therapeutics for Myoclonic Astatic Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myoclonic Astatic Epilepsy

Anatomical Context for Myoclonic Astatic Epilepsy

Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0SLC2A1, GRIN2B, CHD2, SCN1A
2MP:00053867.9SLC2A1, GRIN2B, CHD2, SCN1A
3MP:00053787.7SCN1A, CHD2, GRIN2B, SLC2A1

Publications for Myoclonic Astatic Epilepsy

Sources:
51PubMed
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Articles related to Myoclonic Astatic Epilepsy:

(show all 40)
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
Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures. (23622212)
2013
5
Myoclonic astatic epilepsy and the use of the ketogenic diet. (21632215)
2012
6
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). (22266062)
2012
7
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. (22342656)
2012
8
Dissecting the genetic basis of myoclonic-astatic epilepsy. (22780699)
2012
9
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (21555602)
2011
10
Myoclonic astatic epilepsy and the role of the ketogenic diet. (21710920)
2011
11
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. (21873030)
2011
12
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. (20722665)
2010
13
A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. (18210862)
2008
14
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. (17651420)
2007
15
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. (17275664)
2007
16
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. (17105462)
2006
17
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). (17105463)
2006
18
Ketogenic diet in patients with myoclonic-astatic epilepsy. (16793577)
2006
19
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. (16987744)
2006
20
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. (15944908)
2005
21
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. (15508920)
2005
22
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. (15508921)
2005
23
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. (15351021)
2004
24
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. (14642997)
2003
25
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). (14734934)
2003
26
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. (14597780)
2003
27
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. (12200741)
2002
28
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. (12060020)
2002
29
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). (11701287)
2001
30
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. (10463847)
1999
31
Myoclonic-astatic epilepsy. (1418479)
1992
32
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. (1418481)
1992
33
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). (1396420)
1992
34
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. (1762246)
1991
35
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). (1762225)
1991
36
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. (2512119)
1989
37
Combined myoclonic-astatic and "benign" focal epilepsy of childhood ("atypical benign partial epilepsy of childhood"). A separate syndrome? (3762871)
1986
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
40
Computerized cranial transverse axial tomography (CTAT) in 145 patients with primary and secondary generalized epilepsies. West syndrome, myoclonic-astatic petit mal, absence epilepsy. (107475)
1979

Genetic Variations for Myoclonic Astatic Epilepsy

Expression for genes affiliated with Myoclonic Astatic Epilepsy

Sources:
1BioGPS, 15Gene 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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30KEGG, 52QIAGEN
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Pathways related to Myoclonic Astatic Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.4GRIN2B, SCN1A
2
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9.4GRIN2B, SCN1A

Compounds for genes affiliated with Myoclonic Astatic Epilepsy

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Myoclonic Astatic Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1clozapine45 29 50 1112.3SLC2A1, GRIN2B
2phenytoin45 50 29 1112.0SLC2A1, SCN1A

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

Products for genes affiliated with Myoclonic Astatic Epilepsy

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Sources for Myoclonic Astatic Epilepsy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet