Details of Disease | DrugMAP

General Information of Disease (ID: DIS90R1X)

Disease Name	Epilepsy, idiopathic generalized, susceptibility to, 12
Synonyms	susceptibility to idiopathic generalized epilepsy 12; susceptibility to idiopathic generalised epilepsy 12; epilepsy, idiopathic generalized, susceptibility to, type 12; epilepsy, idiopathic generalized, susceptibility to, 12; EIG12
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS90R1X: Epilepsy, idiopathic generalized, susceptibility to, 12
Disease Identifiers	MONDO ID MONDO_0013919 UMLS CUI C3553859 OMIM ID 614847 MedGen ID 766773

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
SLC2A1	TT79TKF	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	DTG3T6X	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	OTA675TJ	Strong	Autosomal dominant	[2]
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References

1	A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.Mol Cell. 2015 Jun 4;58(5):845-53. doi: 10.1016/j.molcel.2015.04.015. Epub 2015 May 14.
2	From splitting GLUT1 deficiency syndromes to overlapping phenotypes. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.