Details of Disease

General Information of Disease (ID: DIS9VGPW)

• Disease Name: Developmental and epileptic encephalopathy, 7
• Synonyms: KCNQ2-related disorders; EIEE7; KCNQ2-related epileptic encephalopathy; epileptic encephalopathy, early infantile, 7; DEE7; developmental and epileptic encephalopathy 7; epileptic encephalopathy, early infantile, type 7; KCNQ2-related neonatal epileptic encephalopathy; KCNQ2-NEE
• Definition: KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
• Disease Hierarchy:
  DISZOCA3: Epileptic encephalopathy
  DIS9VGPW: Developmental and epileptic encephalopathy, 7
• Disease Identifiers:
  MONDO ID: MONDO_0013387
  UMLS CUI: C3150986
  OMIM ID: 613720
  MedGen ID: 462336
  Orphanet ID: 439218

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
KCNQ2	TTPXI3S	Limited	CausalMutation	[1]
KCNQ2	TTPXI3S	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	OT3CXQJT	Definitive	Autosomal dominant	[2]

References

• [1] A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.Brain Dev. 2018 Jan;40(1):69-73. doi: 10.1016/j.braindev.2017.06.004. Epub 2017 Jul 4.
• [2] Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data. Epileptic Disord. 2013 Jun;15(2):158-65. doi: 10.1684/epd.2013.0578.