General Information of Disease (ID: DIS8OAI7)

Disease Name Continuous spikes and waves during sleep
Synonyms continuous spikes and waves during slow-wave sleep; CSWSS syndrome; epileptic encephalopathy with continuous spike-and-wave during slow sleep; CSWS
Definition
Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
Disease Hierarchy
DIS6IUH6: Landau-Kleffner syndrome
DIS8OAI7: Continuous spikes and waves during sleep
Disease Identifiers
MONDO ID
MONDO_0019123
UMLS CUI
C5552731
MedGen ID
1790601

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
GRIN2A TTKJEMQ Supportive Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRIN2A OTTP0KN8 Supportive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11.