Details of Disease | DrugMAP

General Information of Disease (ID: DIS1YXVQ)

Disease Name	Early myoclonic encephalopathy
Synonyms	myoclonus epilepsy; early myoclonic encephalopathy; epileptic seizures, myoclonic; myoclonic seizure disorder; myoclonic seizure; early myoclonic encephalopathy with suppression-bursts; eme; myoclonia epileptica; myoclonic epilepsy; epileptic seizures - myoclonic
Definition	Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.
Disease Hierarchy	DISHNY7Q: Mitochondrial substrate carrier disorder DISD715V: Hereditary neurological disease DISDOIT9: Neonatal period electroclinical syndrome DISRFC3B: Neonatal/infantile epilepsy syndrome DIS1YXVQ: Early myoclonic encephalopathy
Disease Identifiers	MONDO ID MONDO_0016022 UMLS CUI C0270855 MedGen ID 124373 Orphanet ID 1935 SNOMED CT ID 44423001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SIK1	TT1H6LC	Supportive	Autosomal dominant	[1]
SIK1	TT1H6LC	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A22	DTJCWP8	Limited	Biomarker	[2]
SLC25A22	DTJCWP8	Supportive	Autosomal dominant	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIK1	OT6FCHME	Supportive	Autosomal dominant	[1]
SLC25A22	OTQGVI1N	Supportive	Autosomal dominant	[3]
AMT	OTQYEWZQ	Strong	Genetic Variation	[4]
PIGA	OT51UWUR	Strong	Genetic Variation	[5]
SPTAN1	OT6VY3A3	Strong	Genetic Variation	[6]
STXBP1	OTRYA8C3	Strong	Genetic Variation	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3	Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet. 2005 Feb;76(2):334-9.
4	A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.Eur J Paediatr Neurol. 2016 Jan;20(1):192-5. doi: 10.1016/j.ejpn.2015.08.008. Epub 2015 Sep 5.
5	PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4.
6	Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.Ann Hum Genet. 2015 May;79(3):209-17. doi: 10.1111/ahg.12106. Epub 2015 Mar 16.