MAE
MCID: MYC071
MIFTS: 31

Myoclonic-Atonic Epilepsy (MAE)

Categories: Genetic diseases

Aliases & Classifications for Myoclonic-Atonic Epilepsy

MalaCards integrated aliases for Myoclonic-Atonic Epilepsy:

Name: Myoclonic-Atonic Epilepsy 57 75 29 6
Mae 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first years of life
seizures may remit later in childhood


HPO:

32
myoclonic-atonic epilepsy:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Myoclonic-Atonic Epilepsy

OMIM : 57 Myoclonic-atonic epilepsy is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset (summary by Carvill et al., 2015). (616421)

MalaCards based summary : Myoclonic-Atonic Epilepsy, also known as mae, is related to myoclonic-astastic epilepsy and epilepsy with myoclonic-atonic seizures. An important gene associated with Myoclonic-Atonic Epilepsy is SLC6A1 (Solute Carrier Family 6 Member 1). Affiliated tissues include testes, bone and liver, and related phenotypes are intellectual disability and ataxia

UniProtKB/Swiss-Prot : 75 Myoclonic-atonic epilepsy: A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset.

Related Diseases for Myoclonic-Atonic Epilepsy

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 myoclonic-astastic epilepsy 11.5
2 epilepsy with myoclonic-atonic seizures 11.4
3 spermatogenic failure 6 11.1
4 malaria 10.3
5 epilepsy 10.3
6 diabetes mellitus 10.1
7 goiter 10.1
8 enterobiasis 10.1
9 attention deficit-hyperactivity disorder 9.9
10 hypochondroplasia 9.9
11 polykaryocytosis inducer 9.9
12 epileptic encephalopathy, early infantile, 6 9.9
13 lennox-gastaut syndrome 9.9
14 paragonimiasis 9.9
15 filariasis 9.9
16 optic nerve disease 9.9
17 ebola hemorrhagic fever 9.9
18 influenza 9.9
19 neuropathy 9.9
20 metagonimiasis 9.9
21 distomatosis 9.9

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



Diseases related to Myoclonic-Atonic Epilepsy

Symptoms & Phenotypes for Myoclonic-Atonic Epilepsy

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
absence seizures
tremor (in some patients)
ataxia (in some patients)
intellectual disability, mild to severe
delayed development before seizure onset
more
Skeletal Spine:
scoliosis (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Eyes:
eyelid myoclonus


Clinical features from OMIM:

616421

Human phenotypes related to Myoclonic-Atonic Epilepsy:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 occasional (7.5%) HP:0001251
3 tremor 32 occasional (7.5%) HP:0001337
4 scoliosis 32 occasional (7.5%) HP:0002650
5 absence seizures 32 HP:0002121
6 eyelid myoclonus 32 HP:0025097

Drugs & Therapeutics for Myoclonic-Atonic Epilepsy

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

Genetic Tests for Myoclonic-Atonic Epilepsy

Genetic tests related to Myoclonic-Atonic Epilepsy:

# Genetic test Affiliating Genes
1 Myoclonic-Atonic Epilepsy 29 SLC6A1

Anatomical Context for Myoclonic-Atonic Epilepsy

MalaCards organs/tissues related to Myoclonic-Atonic Epilepsy:

41
Testes, Bone, Liver

Publications for Myoclonic-Atonic Epilepsy

Articles related to Myoclonic-Atonic Epilepsy:

(show top 50) (show all 123)
# Title Authors Year
1
Risk assessment of bioaccessible arsenic and cadmium exposure through rice consumption in local residents of the Mae Tao Sub-district, Northwestern Thailand. ( 29603085 )
2018
2
Freshwater Snail Diversity in Mae Lao Agricultural Basin (Chiang Rai, Thailand) with a Focus on Larval Trematode Infections. ( 29996628 )
2018
3
Challenges for Migrant and Cross-Border Populations With Diabetes Mellitus at Mae Tao Clinic in the Mae Sot-Myawaddy Border Region of Thailand and Myanmar. ( 30012032 )
2018
4
Relationships between Meteorological Parameters and Particulate Matter in Mae Hong Son Province, Thailand. ( 30544675 )
2018
5
Geographical characterization by MAE-HPLC and NIR methodologies and carbonic anhydrase inhibition of Saffron components. ( 27979284 )
2017
6
Bone mineral density at distal forearm in men over 40 years of age in Mae Chaem district, Chiang Mai Province, Thailand: a pilot study. ( 28480789 )
2017
7
Screening of the Antimicrobial Activity against Drug Resistant Bacteria of Photorhabdus and Xenorhabdus Associated with Entomopathogenic Nematodes from Mae Wong National Park, Thailand. ( 28702004 )
2017
8
Assessment of soils contamination with veterinary antibiotic residues in Northern Poland using developed MAE-SPE-LC/MS/MS methods. ( 28735472 )
2017
9
Cadmium accumulation and metallothionein gene expression in the liver of swamp eel (Monopterus albus) collected from the Mae Sot District, Tak Province, Thailand. ( 28973732 )
2017
10
Optimization of microwave-assisted extraction (MAE) of coriander phenolic antioxidants - response surface methodology approach. ( 26916516 )
2016
11
Influences of copolymers (Copovidone, Eudragit RL PO and Kollicoat MAE 30 DP) on stability and bioactivity of spray-dried and freeze-dried lysozyme. ( 27297093 )
2016
12
Antibacterial activity of a modified unfilled resin containing a novel polymerizable quaternary ammonium salt MAE-HB. ( 27659279 )
2016
13
Garra fluviatilis, a new hillstream fish species (Cypriniformes: Cyprinidae) from the Kwai Noi River system, Mae Khlong basin, Thailand. ( 27811745 )
2016
14
A field-scale study of cadmium phytoremediation in a contaminated agricultural soil at Mae Sot District, Tak Province, Thailand: (1) Determination of Cd-hyperaccumulating plants. ( 25454203 )
2015
15
Analysis of dextromethorphan and dextrorphan in decomposed skeletal tissues by microwave assisted extraction, microplate solid-phase extraction and gas chromatography- mass spectrometry (MAE-MPSPE-GCMS). ( 25487525 )
2015
16
Metal-assisted exfoliation (MAE): green, roll-to-roll compatible method for transferring graphene to flexible substrates. ( 25556527 )
2015
17
Development of the MAE/UHPLC-MS-TOF method for determination of benzodiazepines in human bio-fluids for toxicological analysis. ( 25743576 )
2015
18
Contamination of nitrate in groundwater and its potential human health: a case study of lower Mae Klong river basin, Thailand. ( 25874425 )
2015
19
Comparison of Different Extraction Methods for Analysis of 10 Organochlorine Pesticides: Application of MAE-SPE Method in Soil from Beijing. ( 25935331 )
2015
20
Optimization of microwave assisted extraction (MAE) and soxhlet extraction of phenolic compound from licorice root. ( 26028705 )
2015
21
Potential Role of Acetyl-CoA Synthetase (acs) and Malate Dehydrogenase (mae) in the Evolution of the Acetate Switch in Bacteria and Archaea. ( 26235787 )
2015
22
Additional Burden of Diseases Associated with Cadmium Exposure: A Case Study of Cadmium Contaminated Rice Fields in Mae Sot District, Tak Province, Thailand. ( 26262629 )
2015
23
Myoclonic atonic epilepsy: another generalized epilepsy syndrome that is "not so" generalized. ( 24696505 )
2014
24
It's not just the alcohol: gender, alcohol use, and intimate partner violence in Mae La refugee camp, Thailand, 2009. ( 24377756 )
2014
25
Part II: temporal and spatial distribution of multiclass pesticide residues in lake sediments of northern Greece: application of an optimized MAE-LC-MS/MS pretreatment and analytical method. ( 24691934 )
2014
26
Determination of colchicine and O-demethylated metabolites in decomposed skeletal tissues by microwave assisted extraction, microplate solid phase extraction and ultra-high performance liquid chromatography (MAE-MPSPE-UHPLC). ( 24799069 )
2014
27
My life as Mae Tid Chua [mothers who contracted HIV disease]: motherhood and women living with HIV/AIDS in central Thailand. ( 24812033 )
2014
28
A new species of Pseudopyrochroa Pic, 1906 (Coleoptera: Pyrochroidae: Pyrochroinae) from the Mae Chaem District, Thailand. ( 24872174 )
2014
29
NTDB data points: flotation devices -- Mae West style. ( 24946672 )
2014
30
A tribute to Sheik Humarr Khan and all the healthcare workers in West Africa who have sacrificed in the fight against Ebola virus disease: Mae we hush. ( 25196533 )
2014
31
MAE-FMD: multi-agent evolutionary method for functional module detection in protein-protein interaction networks. ( 25265982 )
2014
32
In vitro antibacterial activity of a novel resin-based pulp capping material containing the quaternary ammonium salt MAE-DB and Portland cement. ( 25389975 )
2014
33
Measuring teachers' knowledge of attention deficit hyperactivity disorder: the MAE-TDAH Questionnaire. ( 26055541 )
2014
34
Development and application of microwave assisted extraction (MAE) for the extraction of five polycyclic aromatic hydrocarbons in sediment samples in Johannesburg area, South Africa. ( 23108712 )
2013
35
Assessment of heavy metals in sediments of the Don Hoi Lot area in the Mae Klong estuary, Thailand. ( 23705612 )
2013
36
Lives at risk as federal government dumps Mae Tao Clinic funding. ( 24627931 )
2013
37
Urinary cadmium concentrations in a population downstream: from a zinc mining area in Mae Sot District, Tak Province, Thailand. ( 22684776 )
2013
38
Risky alcohol use among reproductive-age men, not women, in Mae La refugee camp, Thailand, 2009. ( 22963719 )
2012
39
UAE, MAE, SFE-CO2 and classical methods for the extraction of Mitragyna speciosa leaves. ( 22054912 )
2012
40
Antibacterial effect of a resin incorporating a novel polymerizable quaternary ammonium salt MAE-DB against Streptococcus mutans. ( 22566399 )
2012
41
A new method for quantifying prenatal exposure to ethanol by microwave-assisted extraction (MAE) of meconium followed by gas chromatography-mass spectrometry (GC-MS). ( 22669306 )
2012
42
Evaluation of rapid diagnostics for Plasmodium falciparum and P. vivax in Mae Sot Malaria endemic area, Thailand. ( 21461266 )
2011
43
Execution time, kinetics, and kinematics of the mae-geri kick: comparison of national and international standard karate athletes. ( 21995835 )
2011
44
Nutrient loads and their impacts on chlorophyll a in the Mae Klong River and estuarine ecosystem: an approach for nutrient criteria development. ( 22053473 )
2011
45
Urinary and blood cadmium levels in relation to types of food and water intake and smoking status in a Thai population residing in cadmium-contaminated areas in Mae Sot. ( 22299424 )
2011
46
A novel optimised and validated method for analysis of multi-residues of pesticides in fruits and vegetables by microwave-assisted extraction (MAE)-dispersive solid-phase extraction (d-SPE)-retention time locked (RTL)-gas chromatography-mass spectrometry with Deconvolution reporting software (DRS). ( 25214130 )
2011
47
Reproductive Mode of Fejervarya limnocharis (Anura: Ranidae) Caught from Mae Sot, Thailand Based on Its Gonadosomatic Indices. ( 26389013 )
2011
48
Optimisation of focused ultrasound extraction (FUSE) and microwave-assisted extraction (MAE) of hydrocarbons in geological chert samples. ( 21111181 )
2010
49
Monitoring of arsenic in aquatic plants, water, and sediment of wastewater treatment ponds at the Mae Moh Lignite power plant, Thailand. ( 19455397 )
2010
50
Application of an efficient strategy based on MAE, HPLC-DAD-MS/MS and HSCCC for the rapid extraction, identification, separation and purification of flavonoids from Fructus Aurantii Immaturus. ( 19591241 )
2010

Variations for Myoclonic-Atonic Epilepsy

UniProtKB/Swiss-Prot genetic disease variations for Myoclonic-Atonic Epilepsy:

75
# Symbol AA change Variation ID SNP ID
1 SLC6A1 p.Arg44Gln VAR_073852 rs794726859
2 SLC6A1 p.Ala288Val VAR_073853 rs794726860
3 SLC6A1 p.Gly297Arg VAR_073854 rs876657400
4 SLC6A1 p.Ala334Pro VAR_073855 rs749240316

ClinVar genetic disease variations for Myoclonic-Atonic Epilepsy:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A1 NM_003042.3(SLC6A1): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794726859 GRCh37 Chromosome 3, 11059028: 11059028
2 SLC6A1 NM_003042.3(SLC6A1): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794726859 GRCh38 Chromosome 3, 11017342: 11017342
3 SLC6A1 NM_003042.3(SLC6A1): c.889G> A (p.Gly297Arg) single nucleotide variant Pathogenic rs876657400 GRCh37 Chromosome 3, 11067498: 11067498
4 SLC6A1 NM_003042.3(SLC6A1): c.889G> A (p.Gly297Arg) single nucleotide variant Pathogenic rs876657400 GRCh38 Chromosome 3, 11025812: 11025812
5 SLC6A1 NM_003042.3(SLC6A1): c.1000G> C (p.Ala334Pro) single nucleotide variant Pathogenic rs749240316 GRCh37 Chromosome 3, 11067967: 11067967
6 SLC6A1 NM_003042.3(SLC6A1): c.1000G> C (p.Ala334Pro) single nucleotide variant Pathogenic rs749240316 GRCh38 Chromosome 3, 11026281: 11026281
7 SLC6A1 NM_003042.3(SLC6A1): c.1369_1370delGG (p.Gly457Hisfs) deletion Pathogenic rs876657401 GRCh38 Chromosome 3, 11031222: 11031223
8 SLC6A1 NM_003042.3(SLC6A1): c.1369_1370delGG (p.Gly457Hisfs) deletion Pathogenic rs876657401 GRCh37 Chromosome 3, 11072908: 11072909
9 SLC6A1 NM_003042.3(SLC6A1): c.863C> T (p.Ala288Val) single nucleotide variant Likely pathogenic rs794726860 GRCh37 Chromosome 3, 11067472: 11067472
10 SLC6A1 NM_003042.3(SLC6A1): c.863C> T (p.Ala288Val) single nucleotide variant Likely pathogenic rs794726860 GRCh38 Chromosome 3, 11025786: 11025786
11 SLC6A1 NM_003042.3(SLC6A1): c.1352A> G (p.Asp451Gly) single nucleotide variant Uncertain significance rs869312680 GRCh37 Chromosome 3, 11072891: 11072891
12 SLC6A1 NM_003042.3(SLC6A1): c.1352A> G (p.Asp451Gly) single nucleotide variant Uncertain significance rs869312680 GRCh38 Chromosome 3, 11031205: 11031205
13 SLC6A1 NM_003042.3(SLC6A1): c.1243C> A (p.Leu415Ile) single nucleotide variant Benign/Likely benign rs112095333 GRCh37 Chromosome 3, 11070958: 11070958
14 SLC6A1 NM_003042.3(SLC6A1): c.1243C> A (p.Leu415Ile) single nucleotide variant Benign/Likely benign rs112095333 GRCh38 Chromosome 3, 11029272: 11029272
15 SLC6A1 NM_003042.3(SLC6A1): c.223G> A (p.Gly75Arg) single nucleotide variant Likely pathogenic rs1064795852 GRCh38 Chromosome 3, 11017434: 11017434
16 SLC6A1 NM_003042.3(SLC6A1): c.223G> A (p.Gly75Arg) single nucleotide variant Likely pathogenic rs1064795852 GRCh37 Chromosome 3, 11059120: 11059120
17 SLC6A1 NM_003042.3(SLC6A1): c.871C> T (p.Gln291Ter) single nucleotide variant Likely pathogenic rs1064795098 GRCh38 Chromosome 3, 11025794: 11025794
18 SLC6A1 NM_003042.3(SLC6A1): c.871C> T (p.Gln291Ter) single nucleotide variant Likely pathogenic rs1064795098 GRCh37 Chromosome 3, 11067480: 11067480
19 SLC6A1 NM_003042.3(SLC6A1): c.999C> T (p.Phe333=) single nucleotide variant Benign rs138166453 GRCh37 Chromosome 3, 11067966: 11067966
20 SLC6A1 NM_003042.3(SLC6A1): c.999C> T (p.Phe333=) single nucleotide variant Benign rs138166453 GRCh38 Chromosome 3, 11026280: 11026280
21 SLC6A1 NM_003042.3(SLC6A1): c.371-8G> A single nucleotide variant Likely benign rs774167411 GRCh38 Chromosome 3, 11018590: 11018590
22 SLC6A1 NM_003042.3(SLC6A1): c.371-8G> A single nucleotide variant Likely benign rs774167411 GRCh37 Chromosome 3, 11060276: 11060276
23 SLC6A1 NM_003042.3(SLC6A1): c.640_658del19 (p.Leu214Serfs) deletion Pathogenic GRCh38 Chromosome 3, 11022394: 11022412
24 SLC6A1 NM_003042.3(SLC6A1): c.640_658del19 (p.Leu214Serfs) deletion Pathogenic GRCh37 Chromosome 3, 11064080: 11064098
25 SLC6A1 NM_003042.3(SLC6A1): c.912C> T (p.Ile304=) single nucleotide variant Benign rs35450949 GRCh38 Chromosome 3, 11025835: 11025835
26 SLC6A1 NM_003042.3(SLC6A1): c.912C> T (p.Ile304=) single nucleotide variant Benign rs35450949 GRCh37 Chromosome 3, 11067521: 11067521
27 SLC6A1 NM_003042.3(SLC6A1): c.1092G> A (p.Ala364=) single nucleotide variant Likely benign rs199998696 GRCh38 Chromosome 3, 11028748: 11028748
28 SLC6A1 NM_003042.3(SLC6A1): c.1092G> A (p.Ala364=) single nucleotide variant Likely benign rs199998696 GRCh37 Chromosome 3, 11070434: 11070434
29 SLC6A1 NM_003042.3(SLC6A1): c.1527G> A (p.Ala509=) single nucleotide variant Uncertain significance rs34969656 GRCh38 Chromosome 3, 11033739: 11033739
30 SLC6A1 NM_003042.3(SLC6A1): c.1527G> A (p.Ala509=) single nucleotide variant Uncertain significance rs34969656 GRCh37 Chromosome 3, 11075425: 11075425
31 SLC6A1 NM_003042.3(SLC6A1): c.1650G> A (p.Gly550=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 11034653: 11034653
32 SLC6A1 NM_003042.3(SLC6A1): c.1650G> A (p.Gly550=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 11076339: 11076339
33 SLC6A1 NM_003042.3(SLC6A1): c.138G> A (p.Thr46=) single nucleotide variant Benign rs183069336 GRCh38 Chromosome 3, 11017349: 11017349
34 SLC6A1 NM_003042.3(SLC6A1): c.138G> A (p.Thr46=) single nucleotide variant Benign rs183069336 GRCh37 Chromosome 3, 11059035: 11059035
35 SLC6A1 NM_003042.3(SLC6A1): c.152T> A (p.Phe51Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 11017363: 11017363
36 SLC6A1 NM_003042.3(SLC6A1): c.152T> A (p.Phe51Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 11059049: 11059049
37 SLC6A1 NM_003042.3(SLC6A1): c.305G> T (p.Cys102Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 11017909: 11017909
38 SLC6A1 NM_003042.3(SLC6A1): c.305G> T (p.Cys102Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 11059595: 11059595
39 SLC6A1 NM_003042.3(SLC6A1): c.471+6T> C single nucleotide variant Benign rs142579600 GRCh38 Chromosome 3, 11018704: 11018704
40 SLC6A1 NM_003042.3(SLC6A1): c.471+6T> C single nucleotide variant Benign rs142579600 GRCh37 Chromosome 3, 11060390: 11060390
41 SLC6A1 NM_003042.3(SLC6A1): c.480G> T (p.Pro160=) single nucleotide variant Likely benign rs116620331 GRCh38 Chromosome 3, 11020221: 11020221
42 SLC6A1 NM_003042.3(SLC6A1): c.480G> T (p.Pro160=) single nucleotide variant Likely benign rs116620331 GRCh37 Chromosome 3, 11061907: 11061907
43 SLC6A1 NM_003042.3(SLC6A1): c.493G> A (p.Asp165Asn) single nucleotide variant Uncertain significance rs748779390 GRCh38 Chromosome 3, 11020234: 11020234
44 SLC6A1 NM_003042.3(SLC6A1): c.493G> A (p.Asp165Asn) single nucleotide variant Uncertain significance rs748779390 GRCh37 Chromosome 3, 11061920: 11061920
45 SLC6A1 NM_003042.3(SLC6A1): c.561C> T (p.Ser187=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 11020302: 11020302
46 SLC6A1 NM_003042.3(SLC6A1): c.561C> T (p.Ser187=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 11061988: 11061988
47 SLC6A1 NM_003042.3(SLC6A1): c.1255delC (p.Arg419Alafs) deletion Pathogenic GRCh38 Chromosome 3, 11029284: 11029284
48 SLC6A1 NM_003042.3(SLC6A1): c.1255delC (p.Arg419Alafs) deletion Pathogenic GRCh37 Chromosome 3, 11070970: 11070970
49 SLC6A1 NM_003042.3(SLC6A1): c.801C> T (p.Gly267=) single nucleotide variant Likely benign rs150519659 GRCh38 Chromosome 3, 11025535: 11025535
50 SLC6A1 NM_003042.3(SLC6A1): c.801C> T (p.Gly267=) single nucleotide variant Likely benign rs150519659 GRCh37 Chromosome 3, 11067221: 11067221

Expression for Myoclonic-Atonic Epilepsy

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

Pathways for Myoclonic-Atonic Epilepsy

GO Terms for Myoclonic-Atonic Epilepsy

Sources for Myoclonic-Atonic Epilepsy

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