2016
DOI: 10.1159/000447461
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Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

Abstract: Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This … Show more

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Cited by 20 publications
(30 citation statements)
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“…All four ASD variants were 10 located in the voltage sensor (fourth of six transmembrane domains), with three in the same 11 residue (R230), including the gain-of-function R230C mutation observed in NDD (Heyne et al, 12 2018). Five inherited variants observed in benign infantile seizures are shown in the pore loop 13 (Landrum et al, 2014;Maljevic et al, 2016). D, Location of ASD missense variants in SCN1A, 14…”
Section: Figure 3 Genetic Characterization Of Asd Genes a Count Ofmentioning
confidence: 99%
“…All four ASD variants were 10 located in the voltage sensor (fourth of six transmembrane domains), with three in the same 11 residue (R230), including the gain-of-function R230C mutation observed in NDD (Heyne et al, 12 2018). Five inherited variants observed in benign infantile seizures are shown in the pore loop 13 (Landrum et al, 2014;Maljevic et al, 2016). D, Location of ASD missense variants in SCN1A, 14…”
Section: Figure 3 Genetic Characterization Of Asd Genes a Count Ofmentioning
confidence: 99%
“…Alzheimer’s disease (AD) has been correlated to a reduced expression of the GirK2, GirK3, GirK4, KCNQ2, and KCNQ3 subunits and genes encoding for the antioxidants SOD, 8-oxoguanine DNA glycosylase (OGG1), and monoamine oxidase A (MAO-A) in rats [ 184 ]. Familial-inherited epilepsy has also been associated with mutations in KCNQ2 and KCNQ3 [ 185 , 186 , 187 ]. The expression and function of KCNQ2 [ 188 ] and KCNQ3 [ 189 ] are both also altered in cases of bipolar disorder.…”
Section: Inositols In the Brainmentioning
confidence: 99%
“…Out of the 13 KCNQ3 variants causing BFNE, those nine with supportive functional data lie within a span of 51 residues (V279 to R330) in this region. Functional analyses of these variants to date, e.g., V279F, I317T, R330C, and R330L, have mostly demonstrated a reduction in maximal current with no effect on the voltage-dependence of activation (Soldovieri et al, 2014;Miceli et al, 2015;Maljevic et al, 2016), consistent with these variants being in the pore. Only W309R induced both a reduction in currents (by about 60%) and a rather small (3-4 mV) rightward shift in the V 1/2 value, when expressed together with Kv7.2 and Kv7.3 (Uehara et al, 2008).…”
Section: Discussionmentioning
confidence: 83%