MAE
MCID: MYC023
MIFTS: 25

Myoclonic Astatic Epilepsy (MAE) malady

Neuronal diseases, Ear diseases categories

Summaries for Myoclonic Astatic Epilepsy

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 epilepsy syndrome and lennox-gastaut 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

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42NIH Rare Diseases, 44Novoseek, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

myoclonic astatic epilepsy 42 44 60
epilepsy with myoclonic-astatic seizures 42 48
doose syndrome 42 48
myoclonic-astatic epilepsy in early childhood 48
epilepsy with myoclonic-atonic seizures 48
epilepsy with myoclono-astatic crisis 42
myoclonic atonic epilepsy 48
emas 48
mae 48


External Ids:

ICD10 via Orphanet26 G40.4

Related Diseases for Myoclonic Astatic Epilepsy

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17GeneCards, 18GeneDecks
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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 top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy syndrome31.2SLC2A1, GRIN2B, SCN1A
2lennox-gastaut syndrome10.6
3scn1a-related myoclonic-astatic epilepsy10.4
4status epilepticus10.3
5epilepsy with generalized tonic-clonic seizures10.3
6dravet syndrome10.3
7focal epilepsy10.3
8idiopathic generalized epilepsy10.3
9choriocarcinoma10.2
10dermatofibrosarcoma10.1
11malignant mesothelioma10.1
12enterobiasis10.1
13fibrous histiocytoma10.0
14hereditary spherocytosis10.0
15anaplastic large cell lymphoma10.0
16adenocarcinoma10.0
17histiocytoma10.0
18glutaric acidemia type ii10.0
19migraine10.0SCN1A
20prion disease10.0SCN1A
21brain disease10.0SLC2A1, SCN1A
22paragonimiasis10.0
23adenoma10.0
24goiter10.0
25hypertension10.0
26renal hypertension10.0
27burns9.9
28ductal carcinoma in situ9.9
29acute myeloid leukemia9.9
30placental site trophoblastic tumor9.9
31bulimia nervosa9.9
32duodenum adenocarcinoma9.9
33premature ovarian failure9.9
34short bowel syndrome9.9
35celiac disease9.9
36malignant histiocytosis9.9
37type 1 diabetes mellitus9.9
38irritable bowel syndrome9.9
39acute leukemia9.9
40ampulla of vater adenocarcinoma9.9
41apraxia9.9
42basal cell carcinoma9.9
43breast carcinoma in situ9.9
44chondrosarcoma9.9
45diabetes mellitus9.9
46histiocytosis9.9
47hypogonadism9.9
48in situ carcinoma9.9
49intellectual disability9.9
50interstitial lung disease9.9

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



Diseases related to myoclonic astatic epilepsy

Clinical Features for Myoclonic Astatic Epilepsy

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Drugs & Therapeutics for Myoclonic Astatic Epilepsy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Myoclonic Astatic Epilepsy

Search CenterWatch for Myoclonic Astatic Epilepsy

Genetic Tests for Myoclonic Astatic Epilepsy

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Anatomical Context for Myoclonic Astatic Epilepsy

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Animal Models for Myoclonic Astatic Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0GRIN2B, SLC2A1, SCN1A, CHD2
2MP:00053867.9SCN1A, CHD2, GRIN2B, SLC2A1
3MP:00053787.7SLC2A1, SCN1A, CHD2, GRIN2B

Publications for Myoclonic Astatic Epilepsy

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Genetic Variations for Myoclonic Astatic Epilepsy

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Expression for genes affiliated with Myoclonic Astatic Epilepsy

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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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29KEGG, 51QIAGEN
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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

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank
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Compounds related to Myoclonic Astatic Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1clozapine44 28 49 1112.1SLC2A1, GRIN2B
2phenytoin44 49 28 1111.8SLC2A1, SCN1A

GO Terms for genes affiliated with Myoclonic Astatic Epilepsy

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Products for genes affiliated with Myoclonic Astatic Epilepsy

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  • Antibodies
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Sources for Myoclonic Astatic Epilepsy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet