Details of Disease

General Information of Disease (ID: DISLZ3VQ)

Disease Name Seizures, benign familial neonatal, 2
Synonyms
BFNS2; convulsions, benign familial neonatal, 2; seizures, benign neonatal, 2; seizures, benign familial neonatal, type 2; benign neonatal seizures caused by mutation in KCNQ3; seizures, benign familial neonatal, 2; KCNQ3 benign neonatal seizures
Definition Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.
Disease Hierarchy
DISWNBHF: Benign neonatal seizures
DISLZ3VQ: Seizures, benign familial neonatal, 2
Disease Identifiers
MONDO ID
MONDO_0007366
MESH ID
C535466
UMLS CUI
C1852581
OMIM ID
121201
MedGen ID
377707

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB3 TTVRQ8L Strong Genetic Variation [1]
KCNQ2 TTPXI3S Strong Autosomal dominant [2]
KCNQ3 TTIVDM3 Strong Autosomal dominant [3]
KCNQ4 TT8HGRW Strong Genetic Variation [1]
SCN9A TT4G2JS Strong Biomarker [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNQ2 OT3CXQJT Strong Autosomal dominant [2]
KCNQ3 OTXVBEED Strong Autosomal dominant [3]
SCN1B OTGD78J3 Strong Biomarker [4]
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References

1 Molecular pharmacology and therapeutic potential of neuronal Kv7-modulating drugs.Curr Opin Pharmacol. 2008 Feb;8(1):65-74. doi: 10.1016/j.coph.2007.10.003. Epub 2007 Dec 3.
2 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain. 2003 Dec;126(Pt 12):2726-37. doi: 10.1093/brain/awg286. Epub 2003 Oct 8.
3 Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy. J Membr Biol. 2008 Mar;222(2):55-63. doi: 10.1007/s00232-008-9097-5. Epub 2008 Apr 20.
4 Molecular genetics of infantile nervous system channelopathies.Early Hum Dev. 2006 Dec;82(12):775-9. doi: 10.1016/j.earlhumdev.2006.09.013. Epub 2006 Oct 17.