Details of Disease

General Information of Disease (ID: DISUIYG6)

• Disease Name: Epilepsy, idiopathic generalized, susceptibility to, 11
• Synonyms: epilepsy, juvenile myoclonic, susceptibility to, 8; susceptibility to idiopathic generalised epilepsy 11; susceptibility to idiopathic generalized epilepsy 11; epilepsy, juvenile absence, susceptibility to, 2; generalized epilepsy caused by mutation in CLCN2; generalised epilepsy caused by mutation in CLCN2; epilepsy, idiopathic generalized, susceptibility to, type 11; epilepsy, idiopathic generalized, susceptibility to, 11; EIG11; CLCN2 generalised epilepsy; CLCN2 generalized epilepsy
• Definition: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.
• Disease Hierarchy:
  DIS98MYE: Inherited disease susceptibility
  DISXSXWS: Epilepsy, juvenile absence, susceptibility to
  DISUIYG6: Epilepsy, idiopathic generalized, susceptibility to, 11
• Disease Identifiers:
  MONDO ID: MONDO_0011875
  UMLS CUI: C2750893
  OMIM ID: 607628
  MedGen ID: 416407

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN2	TT30NW6	Strong	Autosomal dominant	[1]
CLCN2	TT30NW6	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN2	OTBUHK0B	Strong	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22.