Details of Disease

General Information of Disease (ID: DISD58Q7)

• Disease Name: Epilepsy, idiopathic generalized, susceptibility to, 10
• Synonyms: generalised epilepsy with febrile seizures plus, type 5, susceptibility to; GEFS+, type 5, susceptibility to; GEFS+5, susceptibility to; generalized epilepsy with febrile seizures plus, type 5, susceptibility to; epilepsy, juvenile myoclonic, susceptibility to, 7; GEFSP5, susceptibility to; susceptibility to idiopathic generalized epilepsy 10; EIG10; epilepsy, juvenile myoclonic, susceptibility to; epilepsy, idiopathic generalized, susceptibility to, 10; epilepsy, idiopathic generalized, 10; susceptibility to idiopathic generalised epilepsy 10; epilepsy, idiopathic generalized, susceptibility to, type 10
• Definition: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.
• Disease Hierarchy:
  DIS98MYE: Inherited disease susceptibility
  DISD58Q7: Epilepsy, idiopathic generalized, susceptibility to, 10
• Disease Identifiers:
  MONDO ID: MONDO_0013103
  UMLS CUI: C2751603
  OMIM ID: 613060
  MedGen ID: 414062

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
GABRD	TTGXH6N	Limited	Autosomal dominant	[1]
GABRD	TTGXH6N	Limited	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GABRD	OTO38I2R	Limited	Autosomal dominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] Association of GABAA Receptor Gene with Epilepsy Syndromes.J Mol Neurosci. 2018 Jun;65(2):141-153. doi: 10.1007/s12031-018-1081-7. Epub 2018 May 21.