Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized epilepsy (IGE) including benign neonatal convulsions. We identified a de novo t(3;8) (q21;q24) translocation truncating KCNQ3 in a boy with childhood autism. In addition, we identified a c.1720C > T [p.P574S] nucleotide change in three unrelated individuals with childhood autism and no history of convulsions. This nucleotide change was previously reported in patients with rolandic epilepsy or IGE and has now been annotated as a very rare SNP (rs74582884) in dbSNP. The p.P574S KV7.3 variant significantly reduced potassium current amplitude in Xenopus laevis oocytes when co-expressed with KV7.5 but not with KV7.2 or KV7.4. The nucleotide change did not affect trafficking of heteromeric mutant KV7.3/2, KV7.3/4, or KV7.3/5 channels in HEK 293 cells or primary rat hippocampal neurons. Our results suggest that dysfunction of the heteromeric KV7.3/5 channel is implicated in the pathogenesis of some forms of autism spectrum disorders, epilepsy, and possibly other psychiatric disorders and therefore, KCNQ3 and KCNQ5 are suggested as candidate genes for these disorders

Sensitivity of deexcitation energies of superdeformed secondary minima to the density dependence of symmetry energy with the relativistic mean-field theory

The relationship between deexcitation energies of superdeformed secondary minima relative to ground states and the density dependence of the symmetry energy is investigated for heavy nuclei using the relativistic mean field (RMF) model. It is shown that the deexcitation energies of superdeformed secondary minima are sensitive to differences in the symmetry energy that are mimicked by the isoscalar-isovector coupling included in the model. With deliberate investigations on a few Hg isotopes that have data of deexcitation energies, we find that the description for the deexcitation energies can be improved due to the softening of the symmetry energy. Further, we have investigated deexcitation energies of odd-odd heavy nuclei that are nearly independent of pairing correlations, and have discussed the possible extraction of the constraint on the density dependence of the symmetry energy with the measurement of deexcitation energies of these nuclei.Comment: 14 pages, 3 figure

Identification of excited structures in proton unbound nuclei 173,175,177Au: Shape co-existence and intruder bands

Excited states in the proton-unbound 173,175,177Au nuclei were identified for the first time. Level structures associated with three different shapes were observed in 175Au. While the yrast lines of 175Au and 177Au consist of a prolate band built upon the intruder 1/2+[660] (i13/2) proton orbital, no sign of collectivity was observed in the lighter 173Au isotope. Implications for the deformation associated with these structures are discussed with a focus on shape co-existence in the vicinity of the proton-drip line

Limits of the energy-spin phase space beyond the proton drip line: Entry distributions of Pt and Au isobars

Entry distributions in angular momentum and excitation energy have been measured for several very proton-rich isotopes of Pt and Au. This is the first systematic study of the energy-spin phase space for nuclei near and beyond the proton drip line. Comparisons are made between the distributions associated with proton-unbound Au nuclei and more stable Pt isobars. In 173Au the first evidence is seen for the limits of excitation energy and angular momentum which a nucleus beyond the proton drip line can sustain

In-beam γ-ray spectroscopy of 172Pt

Collective structures in 172Pt have been investigated by measuring in-beam γ rays with mass selection and the recoil-decay tagging technique. The discrepancy in the ground-state band from previous studies has been resolved, and a new collective structure that is likely based on an octupole vibration has been identified. A band mixing model is used to determine the properties of the competing near-spherical and deformed ground-state sequences in the light Os-Pt-Hg-Pb region. Evidence for a reduction of deformation in the deformed vacuum structure below N=98 is presented

Shape coexistence and band crossings in 174Pt

High-spin states in 174Pt were populated via the 92Mo(84Sr, 2p) and 92Mo(84Sr, 2p2n) reactions. The ground-state band has been extended from I= 14 to 24 (tentatively 26) and a new side band is observed up to a spin of 21 (tentatively 23). A low-frequency crossing is observed in the latter band at a rotational frequency that is similar to that seen in the ground-state band. The first and second i13/2 neutron alignments are also observed in 174Pt. Surprisingly, these crossings occur at approximately the same frequency. Total Routhian surface and cranked shell model calculations are used in an attempt to understand this behavior