Details of Disease

General Information of Disease (ID: DISTAVMU)

Disease Name Myoclonic-astatic epilepsy
Synonyms
epilepsy with myoclono-astatic crisis; myoclonic astatic epilepsy; mae; myoclonic-astatic epilepsy in early childhood; Doose syndrome; epilepsy with myoclonic-atonic seizures; epilepsy with myoclonic-astatic seizures; EMAS; myoclonic atonic epilepsy
Definition
Myoclonic 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.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISD715V: Hereditary neurological disease
DIS1BLHT: Inborn disorder of amino acid transport
DISYKM6G: Childhood-onset epilepsy syndrome
DISTAVMU: Myoclonic-astatic epilepsy
Disease Identifiers
MONDO ID
MONDO_0016025
MESH ID
D004831
UMLS CUI
C0393702
OMIM ID
616421
MedGen ID
98284
HPO ID
HP:0011170
Orphanet ID
1942
SNOMED CT ID
230421008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCN2 TT30NW6 Strong Genetic Variation [1]
SCN1A TTANOZH Strong Genetic Variation [2]
SLC6A1 TTPRKM0 Strong GermlineCausalMutation [3]
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This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN1A DTN0M1I Supportive Unknown [2]
SLC2A1 DTG3T6X Supportive Unknown [4]
SLC6A1 DT8Z563 Supportive Unknown [3]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STX1B OTSW59X0 Limited Genetic Variation [5]
AP2M1 OTQCOSFN Supportive Unknown [6]
CHD2 OTRKL6YC Supportive Unknown [7]
NEXMIF OT576F40 Supportive Unknown [8]
SCN1A OTJ9ZTYI Supportive Unknown [2]
SLC2A1 OTA675TJ Supportive Unknown [4]
SLC6A1 OTLCJJF3 Supportive Unknown [3]
SYNGAP1 OT41HVYQ Supportive Unknown [8]
PMP22 OTXWYWCZ Strong Biomarker [9]
RAPGEF2 OTZWX2AA Strong Biomarker [10]
SAMD12 OTIFG9O6 Strong Biomarker [10]
STXBP1 OTRYA8C3 Strong Biomarker [11]
TNRC6A OT493IOM Strong Biomarker [10]
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⏷ Show the Full List of 13 DOT(s)

References

1 Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876.
2 One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neurosci Lett. 2011 Apr 25;494(2):180-3. doi: 10.1016/j.neulet.2011.03.008. Epub 2011 Mar 15.
3 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015 May 7;96(5):808-15.
4 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol. 2011 Sep;68(9):1152-5. doi: 10.1001/archneurol.2011.102. Epub 2011 May 9.
5 Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.Eur J Paediatr Neurol. 2016 May;20(3):489-92. doi: 10.1016/j.ejpn.2015.12.014. Epub 2016 Jan 8.
6 A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16.
7 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.
8 Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29.
9 Myoclonic seizures in a patient with Charcot-Marie-tooth disease.Pediatr Neurol. 2007 Feb;36(2):118-20. doi: 10.1016/j.pediatrneurol.2006.09.006.
10 Expansions?of?intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.
11 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11.