Details of Disease

General Information of Disease (ID: DISIV4IG)

• Disease Name: Developmental and epileptic encephalopathy, 32
• Synonyms: early infantile epileptic encephalopathy caused by mutation in KCNA2; EIEE32; developmental and epileptic encephalopathy 32; KCNA2 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, type 32; DEE32; epileptic encephalopathy, early infantile, 32
• Definition: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.
• Disease Hierarchy:
  DISISEI2: Undetermined early-onset epileptic encephalopathy
  DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
  DISZOCA3: Epileptic encephalopathy
  DISIV4IG: Developmental and epileptic encephalopathy, 32
• Disease Identifiers:
  MONDO ID: MONDO_0014607
  UMLS CUI: C4225350
  OMIM ID: 616366
  MedGen ID: 909501

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
KCNA2	TTVFB0O	Limited	CausalMutation	[1]
KCNA2	TTVFB0O	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNA2	OT18SUP8	Strong	Autosomal dominant	[2]

References

• [1] Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26.
• [2] Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons. J Neurophysiol. 2007 Sep;98(3):1501-25. doi: 10.1152/jn.00640.2006. Epub 2007 Jul 18.