General Information of Disease (ID: DISWP477)

Disease Name Sleep-related hypermotor epilepsy
Synonyms sleep-related hypermotor epilepsy; epilepsy, nocturnal frontal lobe
Disease Hierarchy
DISHN8AO: Frontal lobe epilepsy
DISHLPYW: Familial partial epilepsy
DISWP477: Sleep-related hypermotor epilepsy
Disease Identifiers
MONDO ID
MONDO_0000030
UMLS CUI
C4313718
MedGen ID
937685

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHRNA2 TTF4E0J Limited Autosomal dominant [1]
CHRNA4 TT4H1MQ Definitive Autosomal dominant [1]
CHRNB2 TT5KPZR Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHRNA2 OTVQQSMK Limited Autosomal dominant [1]
CHRNA4 OT1H0ZXC Definitive Autosomal dominant [1]
CHRNB2 OTNAT2M5 Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.