Details of Disease

General Information of Disease (ID: DISELJ0F)

Disease Name Familial infantile myoclonic epilepsy
Synonyms Eim; myoclonic epilepsy, familial infantile; myoclonic epilepsy, infantile, familial; FIME; familial infantile myoclonus epilepsy
Disease Hierarchy
DIS1YXVQ: Early myoclonic encephalopathy
DIS80GDF: Monogenic epilepsy
DISELJ0F: Familial infantile myoclonic epilepsy
Disease Identifiers
MONDO ID
MONDO_0011506
MESH ID
D004831
UMLS CUI
C0917800
OMIM ID
605021
MedGen ID
181488
Orphanet ID
352582
SNOMED CT ID
784342008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN1A TTANOZH Strong Biomarker [1]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPLX1 OT7UIGTP Supportive Autosomal recessive [2]
ARF6 OTVV7KJO Strong Genetic Variation [3]
PMP22 OTXWYWCZ Strong Biomarker [4]
RAPGEF2 OTZWX2AA Strong Biomarker [5]
SAMD12 OTIFG9O6 Strong Biomarker [5]
STXBP1 OTRYA8C3 Strong Biomarker [6]
TNRC6A OT493IOM Strong Biomarker [5]
TBC1D24 OTKZUSMD Definitive Autosomal recessive [7]
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⏷ Show the Full List of 8 DOT(s)

References

1 Therapy for hyperthermia-induced seizures in Scn1a mutant rats.Epilepsia. 2011 May;52(5):1010-7. doi: 10.1111/j.1528-1167.2011.03046.x. Epub 2011 Apr 11.
2 Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
3 TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19.
4 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.
5 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.
6 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.
7 A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001.