KCNQ2 benign familial neonatal convulsions (BFNC)
Evidence-based neurology checklist on kcnq2 benign familial neonatal convulsions (bfnc): Genetics This is typically caused by KCNQ2 mutations 5% of cases are caused by KCNQ3 mutations It is an idiopathic generalised epilepsy of neonates Clinical features Treatment Synonym
Genetics
- This is typically caused by KCNQ2 mutations
- 5% of cases are caused by KCNQ3 mutations
- It is an idiopathic generalised epilepsy of neonates
Clinical features
Treatment
Synonym
References
- Zara F, Specchio N, Striano P, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013; 54:425-436.
- Soldovieri MV, Cilio MR, Miceli F, et al. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. J Neurosci 2007; 27:4919-4928.
- Borgatti R, Zucca C, Cavallini A, et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 2004; 63:57-65.
- Piro E, Nardello R, Gennaro E, et al. A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome. Epileptic Disord 2019; 21:87-91.
- Miceli F, Striano P, Soldovieri MV, et al. A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia 2015; 56:e15-e20.
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