MCID: MYC071
MIFTS: 20

Myoclonic-Atonic Epilepsy

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 myoclonic astatic epilepsy. An important gene associated with Myoclonic-Atonic Epilepsy is SLC6A1 (Solute Carrier Family 6 Member 1). 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:

# Related Disease Score Top Affiliating Genes
1 myoclonic-astastic epilepsy 11.3
2 myoclonic astatic epilepsy 11.3
3 epilepsy 10.1

Symptoms & Phenotypes for Myoclonic-Atonic Epilepsy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
eyelid myoclonus

Neurologic Central Nervous System:
delayed development before seizure onset
intellectual disability, mild to severe
myoclonic-atonic seizures
absence seizures
generalized spike-wave discharges seen on eeg
more
Skeletal Spine:
scoliosis (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features


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 absence seizures 32 HP:0002121
5 scoliosis 32 occasional (7.5%) HP:0002650
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

Publications for Myoclonic-Atonic Epilepsy

Articles related to Myoclonic-Atonic Epilepsy:

# Title Authors Year
1
Myoclonic atonic epilepsy: another generalized epilepsy syndrome that is "not so" generalized. ( 24696505 )
2014

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 118)
# 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.371-8G> A single nucleotide variant Likely benign rs774167411 GRCh37 Chromosome 3, 11060276: 11060276
20 SLC6A1 NM_003042.3(SLC6A1): c.371-8G> A single nucleotide variant Likely benign rs774167411 GRCh38 Chromosome 3, 11018590: 11018590
21 SLC6A1 NM_003042.3(SLC6A1): c.640_658del19 (p.Leu214Serfs) deletion Pathogenic GRCh37 Chromosome 3, 11064080: 11064098
22 SLC6A1 NM_003042.3(SLC6A1): c.640_658del19 (p.Leu214Serfs) deletion Pathogenic GRCh38 Chromosome 3, 11022394: 11022412
23 SLC6A1 NM_003042.3(SLC6A1): c.912C> T (p.Ile304=) single nucleotide variant Benign rs35450949 GRCh38 Chromosome 3, 11025835: 11025835
24 SLC6A1 NM_003042.3(SLC6A1): c.912C> T (p.Ile304=) single nucleotide variant Benign rs35450949 GRCh37 Chromosome 3, 11067521: 11067521
25 SLC6A1 NM_003042.3(SLC6A1): c.999C> T (p.Phe333=) single nucleotide variant Benign rs138166453 GRCh37 Chromosome 3, 11067966: 11067966
26 SLC6A1 NM_003042.3(SLC6A1): c.999C> T (p.Phe333=) single nucleotide variant Benign rs138166453 GRCh38 Chromosome 3, 11026280: 11026280
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.561C> T (p.Ser187=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 11061988: 11061988
36 SLC6A1 NM_003042.3(SLC6A1): c.152T> A (p.Phe51Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 11017363: 11017363
37 SLC6A1 NM_003042.3(SLC6A1): c.152T> A (p.Phe51Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 11059049: 11059049
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.305G> T (p.Cys102Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 11017909: 11017909
40 SLC6A1 NM_003042.3(SLC6A1): c.471+6T> C single nucleotide variant Benign rs142579600 GRCh38 Chromosome 3, 11018704: 11018704
41 SLC6A1 NM_003042.3(SLC6A1): c.471+6T> C single nucleotide variant Benign rs142579600 GRCh37 Chromosome 3, 11060390: 11060390
42 SLC6A1 NM_003042.3(SLC6A1): c.480G> T (p.Pro160=) single nucleotide variant Likely benign rs116620331 GRCh38 Chromosome 3, 11020221: 11020221
43 SLC6A1 NM_003042.3(SLC6A1): c.480G> T (p.Pro160=) single nucleotide variant Likely benign rs116620331 GRCh37 Chromosome 3, 11061907: 11061907
44 SLC6A1 NM_003042.3(SLC6A1): c.493G> A (p.Asp165Asn) single nucleotide variant Uncertain significance rs748779390 GRCh38 Chromosome 3, 11020234: 11020234
45 SLC6A1 NM_003042.3(SLC6A1): c.493G> A (p.Asp165Asn) single nucleotide variant Uncertain significance rs748779390 GRCh37 Chromosome 3, 11061920: 11061920
46 SLC6A1 NM_003042.3(SLC6A1): c.561C> T (p.Ser187=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 11020302: 11020302
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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74 UMLS via Orphanet
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