MCID: MYC023
MIFTS: 29

Myoclonic Astatic Epilepsy

Categories: Rare diseases

Aliases & Classifications for Myoclonic Astatic Epilepsy

MalaCards integrated aliases for Myoclonic Astatic Epilepsy:

Name: Myoclonic Astatic Epilepsy 49 51 69
Epilepsy with Myoclonic-Astatic Seizures 49
Epilepsy with Myoclono-Astatic Crisis 49
Myoclonic-Astatic Epilepsy 36
Doose Syndrome 49

Classifications:



External Ids:

KEGG 36 H01823
UMLS 69 C0393702

Summaries for Myoclonic Astatic Epilepsy

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1942Disease definitionMyoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.EpidemiologyThe incidence is approximately 1/10,000 children. Boys are more frequently affected than girls.Clinical descriptionIn 94% of cases, onset occurs during the first 5 years of life, most commonly between the ages of 3-4 years. Before onset, children usually have normal psychomotor development, but primary developmental delay has been described in some. Some patients have febrile seizures prior to onset of epilepsy. Characteristic of MAE are myoclonic-atonic or myoclonic-astatic seizures, which consist of quick jerking movements (occuring axially or truncally), followed by a drop attack (loss of muscle tone), which can result in falls and injuries. Astatic seizures can also be observed without the myoclonic component. Generalized tonic-clonic seizures are also amongst the most frequently observed seizures. Absence seizures may occur. Some patients may have tonic seizures, even though some clinicians regard the occurrence of these as an exclusion criterion for MAE. Cognitive impairment is variable and both normal cognition and moderate to severe cognitive impairment have been described. Impulsivity, aggression and autistic-like behavior have been noted in some. Seizure remission occurs, on average, 3.5 years after onset but some patients may suffer from persisting intractable seizures, often along with cognitive impairment.EtiologyExact etiology is unknown but thought to be genetic. Several genes have been identified in patients with MAE, with and without a family history of generalized epilepsy with febrile seizures-plus (GEFS+) (see this term). These genes are SCN1A (2q24.3), SCN1B (19q13.12) and GABRG2 (5q34) but they are not usually found in sporadic patients. Up to 10% of patients with MAE have been reported to carry non-causal mutations in the SLC2A1 gene (1p34.2). Recently, some patients with MAE-like phenotypes were found to have mutations in CHD2 (15q26).Diagnostic methodsDiagnosis is based on the occurrence of myoclonic-atonic seizures and other seizures in previously healthy children between the ages of 7 months - 6 years. Electroencephalogram (EEG) is initially normal but brief bursts of 2-5Hz spike and wave and polyspike and wave complexes are noted as the disease progresses. EEG usually shows generalized spike-wave activity interictally and during seizures and background activity can show various degrees of slowing. The presence of explanatory findings on MRI is usually thought to exclude the diagnosis of MAE.Differential diagnosisDifferential diagnoses include Lennox-Gastaut syndrome, Dravet syndrome, Benign Myoclonic Epilepsy of Infancy (see these terms) and structural brain lesions.Genetic counselingIn patients with identified de novo alterations and in families with a known genetic mutation associated with GEFS+, genetic counseling is possible.Management and treatmentThe primary goal of treatment is seizure control. Vaproic acid, either alone or with other antiepileptic drugs (i.e. clobazam, levetiracetam, ethosuximide or topiramate) are the primary options considered. In patients with refractory seizures, a ketogenic diet may be implemented as it has been effective in controlling seizures in some. This may be particularly relevant in patients with identified SLC2A1 mutations. Vagus nerve stimulation has also been successful in some.PrognosisPrognosis is variable, ranging from normal neurodevelopmental outcome and complete seizure remission after several years, to severe intellectual disability and intractable seizures. Poor prognosis may be predicted by episodes of status epilepticus and cognitive decline soon after the 1st year of onset.Visit the Orphanet disease page for more resources. Last updated: 5/6/2014

MalaCards based summary : Myoclonic Astatic Epilepsy, also known as epilepsy with myoclonic-astatic seizures, is related to epilepsy and lennox-gastaut syndrome. An important gene associated with Myoclonic Astatic Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways is AMPK Enzyme Complex Pathway. The drug Dronabinol has been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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:

25 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.78 GRIN2B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.78 SLC2A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.78 SLC2A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 GRIN2B SLC2A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.78 GRIN2B SLC2A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 SCN1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.78 SCN1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.78 GRIN2B SCN1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.78 GRIN2B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 SCN1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.78 SLC2A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.78 SLC2A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.78 GRIN2B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 GRIN2B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.78 SLC2A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.78 SLC2A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.78 SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.78 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

MGI Mouse Phenotypes related to Myoclonic Astatic Epilepsy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 8.92 GRIN2B SCN1A SLC2A1 SMARCA2

Drugs & Therapeutics for Myoclonic Astatic Epilepsy

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20

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:

38
Brain, Eye

Publications for Myoclonic Astatic Epilepsy

Articles related to Myoclonic Astatic Epilepsy:

(show all 48)
# Title Authors Year
1
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. ( 27665729 )
2017
2
A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy. ( 28617265 )
2017
3
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. ( 26818399 )
2016
4
Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures. ( 29308451 )
2016
5
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. ( 25884503 )
2015
6
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. ( 26625664 )
2015
7
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. ( 26537434 )
2015
8
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. ( 25455059 )
2015
9
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - Differences from those in myoclonic-astatic epilepsy. ( 24731746 )
2014
10
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. ( 25022865 )
2014
11
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). ( 24696509 )
2014
12
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. ( 23643463 )
2013
13
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? ( 23159713 )
2013
14
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. ( 24055341 )
2013
15
Dissecting the genetic basis of myoclonic-astatic epilepsy. ( 22780699 )
2012
16
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. ( 22342656 )
2012
17
Myoclonic astatic epilepsy and the use of the ketogenic diet. ( 21632215 )
2012
18
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). ( 22266062 )
2012
19
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. ( 21555602 )
2011
20
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. ( 21873030 )
2011
21
Myoclonic astatic epilepsy and the role of the ketogenic diet. ( 21710920 )
2011
22
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. ( 20722665 )
2010
23
[A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. ( 18210862 )
2008
24
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. ( 17275664 )
2007
25
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. ( 17651420 )
2007
26
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. ( 17105462 )
2006
27
Ketogenic diet in patients with myoclonic-astatic epilepsy. ( 16793577 )
2006
28
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). ( 17105463 )
2006
29
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. ( 16987744 )
2006
30
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. ( 15944908 )
2005
31
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. ( 15508921 )
2005
32
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. ( 15508920 )
2005
33
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. ( 15351021 )
2004
34
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. ( 14597780 )
2003
35
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). ( 14734934 )
2003
36
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. ( 14642997 )
2003
37
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. ( 12060020 )
2002
38
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. ( 12200741 )
2002
39
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). ( 11701287 )
2001
40
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. ( 10463847 )
1999
41
Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. ( 1418481 )
1992
42
Myoclonic-astatic epilepsy. ( 1418479 )
1992
43
Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome). ( 1396420 )
1992
44
Myoclonic astatic epilepsy presenting eyelid myoclonic seizures induced by closing of eyes. ( 1762246 )
1991
45
A video-EEG study of astatic seizures observed in patients with myoclonic astatic epilepsy of early childhood (Doose syndrome). ( 1762225 )
1991
46
Neonatal sleep myoclonus followed by myoclonic-astatic epilepsy: a case report. ( 2512119 )
1989
47
Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. II. Cluster analysis of the power spectra. ( 6791045 )
1981
48
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
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.86 SLC2A1 SMARCA2

GO Terms for Myoclonic Astatic Epilepsy

Cellular components related to Myoclonic Astatic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.96 SCN1A SLC2A1
2 intercalated disc GO:0014704 8.62 SCN1A SLC2A1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 8.62 GRIN2B SCN1A

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

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

Sources for Myoclonic Astatic Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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