MAE
MCID: MYC069
MIFTS: 29

Myoclonic-Astastic Epilepsy (MAE)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic-Astastic Epilepsy

MalaCards integrated aliases for Myoclonic-Astastic Epilepsy:

Name: Myoclonic-Astastic Epilepsy 59
Myoclonic-Astatic Epilepsy in Early Childhood 59
Epilepsy with Myoclonic-Astatic Seizures 59
Epilepsy with Myoclonic-Atonic Seizures 59
Myoclonic Astatic Epilepsy 73
Epilepsy, Myoclonic-Atonic 40
Myoclonic Atonic Epilepsy 59
Doose Syndrome 59
Emas 59
Mae 59

Characteristics:

Orphanet epidemiological data:

59
myoclonic-astastic epilepsy
Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Myoclonic-Astastic Epilepsy

MalaCards based summary : Myoclonic-Astastic Epilepsy, also known as myoclonic-astatic epilepsy in early childhood, is related to epilepsy with myoclonic-atonic seizures and epilepsy. An important gene associated with Myoclonic-Astastic Epilepsy is SLC6A1 (Solute Carrier Family 6 Member 1). Affiliated tissues include brain, lung and bone, and related phenotypes are ataxia and dysarthria

Related Diseases for Myoclonic-Astastic Epilepsy

Diseases related to Myoclonic-Astastic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 epilepsy with myoclonic-atonic seizures 31.8 CHD2 SLC6A1
2 epilepsy 29.5 CHD2 SLC6A1
3 myoclonic-atonic epilepsy 11.7
4 multiple acyl-coa dehydrogenase deficiency 11.5
5 spermatogenic failure 6 11.1
6 seizure disorder 10.4
7 malaria 10.3
8 gestational trophoblastic tumor 10.2
9 hereditary spherocytosis 10.1
10 aging 10.1
11 choriocarcinoma 10.1
12 hypogonadism 10.1
13 trophoblastic neoplasm 10.1
14 diabetes mellitus 10.1
15 goiter 10.1
16 enterobiasis 10.1
17 status epilepticus 10.0
18 osteoporosis 10.0
19 dermatofibrosarcoma protuberans 10.0
20 pyropoikilocytosis, hereditary 9.9
21 basal cell carcinoma 1 9.9
22 sexual disorder 9.9
23 basal cell carcinoma 9.9
24 adenocarcinoma 9.9
25 histiocytoma 9.9
26 fibrous histiocytoma 9.9
27 ependymoma 9.9
28 attention deficit-hyperactivity disorder 9.9
29 hypochondroplasia 9.9
30 polykaryocytosis inducer 9.9
31 epileptic encephalopathy, early infantile, 6 9.9
32 lennox-gastaut syndrome 9.9
33 paragonimiasis 9.9
34 filariasis 9.9
35 optic nerve disease 9.9
36 ebola hemorrhagic fever 9.9
37 influenza 9.9
38 neuropathy 9.9
39 metagonimiasis 9.9
40 distomatosis 9.9
41 bladder cancer 9.8
42 alagille syndrome 1 9.8
43 renal cell carcinoma, nonpapillary 9.8
44 ichthyosis bullosa of siemens 9.8
45 ovarian cancer 9.8
46 celiac disease 1 9.8
47 hydatidiform mole, recurrent, 1 9.8
48 myeloma, multiple 9.8
49 premature ovarian failure 1 9.8
50 oncocytoma 9.8

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



Diseases related to Myoclonic-Astastic Epilepsy

Symptoms & Phenotypes for Myoclonic-Astastic Epilepsy

Human phenotypes related to Myoclonic-Astastic Epilepsy:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
4 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
5 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
6 febrile seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002373
7 photosensitive tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0007207
8 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
9 status epilepticus 59 32 frequent (33%) Frequent (79-30%) HP:0002133
10 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
11 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
12 impulsivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100710
13 atonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0010819
14 eeg with spike-wave complexes (>3.5 hz) 59 32 hallmark (90%) Very frequent (99-80%) HP:0010849
15 myoclonic atonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0011170
16 eeg with abnormally slow frequencies 59 32 frequent (33%) Frequent (79-30%) HP:0011203
17 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
18 epileptic encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0200134
19 generalized myoclonic seizures 59 Very frequent (99-80%)
20 myoclonus 32 occasional (7.5%) HP:0001336
21 generalized tonic-clonic seizures 59 Very frequent (99-80%)
22 involuntary jerking movements 59 Occasional (29-5%)

Drugs & Therapeutics for Myoclonic-Astastic Epilepsy

Search Clinical Trials , NIH Clinical Center for Myoclonic-Astastic Epilepsy

Genetic Tests for Myoclonic-Astastic Epilepsy

Anatomical Context for Myoclonic-Astastic Epilepsy

MalaCards organs/tissues related to Myoclonic-Astastic Epilepsy:

41
Brain, Lung, Bone, Myeloid

Publications for Myoclonic-Astastic Epilepsy

Articles related to Myoclonic-Astastic Epilepsy:

# Title Authors Year
1
Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures. ( 23622212 )
2013

Variations for Myoclonic-Astastic Epilepsy

Expression for Myoclonic-Astastic Epilepsy

Search GEO for disease gene expression data for Myoclonic-Astastic Epilepsy.

Pathways for Myoclonic-Astastic Epilepsy

GO Terms for Myoclonic-Astastic Epilepsy

Sources for Myoclonic-Astastic Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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