Highlights • We summarized 977 epilepsy-associated genes, which were divided into 4 categories according to the manifestation of epilepsy in phenotypes. • 84 epilepsy genes, i.e., genes that only ...cause epilepsies or syndromes with epilepsy as the core symptom. • 73 neurodevelopment-associated genes, i.e., genes associated with gross brain developmental malformations and epilepsies. • 536 epilepsy-related genes, i.e., genes associated with gross physical, or other systemic abnormalities and accompanied by epilepsy or seizures. • 284 potential epilepsy-associated genes, i.e., genes that require further verification.
We study the connections between local quantum coherence (LQC) based on Wigner-Yanase skew information and quantum phase transitions (QPTs). When applied on the one-dimensional Hubbard, XY spin chain ...with three-spin interaction, and Su-Schrieffer-Heeger models, the LQC and its derivatives are used successfully to detect different types of QPTs in these spin and fermionic systems. Furthermore, the LQC is effective as the quantum discord (QD) in detecting QPTs at finite temperatures, where the entanglement has lost its effectiveness. We also demonstrate that the LQC can exhibit different behaviors in many forms compared with the QD.
ABSTRACT
Mutations in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and modes of inheritance and in asymptomatic carriers. This raises challenges in ...evaluating the pathogenicity of SCN1A mutations. We systematically reviewed all SCN1A mutations and established a database containing information on functional alterations. In total, 1,257 mutations have been identified, of which 81.8% were not recurrent. There was a negative correlation between phenotype severity and missense mutation frequency. Further analyses suggested close relationships among genotype, functional alteration, and phenotype. Missense mutations located in different sodium channel regions were associated with distinct functional changes. Missense mutations in the pore region were characterized by the complete loss of function, similar to haploinsufficiency. Mutations with severe phenotypes were more frequently located in the pore region, suggesting that functional alterations are critical in evaluating pathogenicity and can be applied to patient management. A negative correlation was found between phenotype severity and familial incidence, and incomplete penetrance was associated with missense and splice site mutations, but not truncations or genomic rearrangements, suggesting clinical genetic counseling applications. Mosaic mutations with a load of 12.5–25.0% were potentially pathogenic with low penetrance, suggesting the need for future studies on less pathogenic genomic variations.
We systematically reviewed SCN1A mutations and established a database with sections detailing functional alteration (funotype) and inheritance. Further analyses indicated a close genotype‐funotype‐phenotype relationship. Mutations located in different sodium channel regions were associated with distinct funotype and subsequently different phenotype severity, suggesting that funotype is critical in evaluating pathogenicity. A negative correlation was found between phenotype severity and familial incidence, incomplete penetrance was associated with missense and splice‐site mutations, but not truncations or genomic rearrangements, suggesting clinical genetic counseling applications.
The movement toward cobalt‐free cathode materials has served as a motivation for increased research in layered nickel‐rich cathodes for next generation metal batteries. Unfortunately, Ni‐rich cathode ...materials suffer from low capacity retention and poor thermal stability due to phase transition that results in issues such as the oxygen evolution reaction, hindering its extensive implementation. Herein, highly pliable separators with a 3D porous structure are prepared via a facile phase‐inversion method from an inorganic phosphorus‐based flame retardant and a thermally conductive graphene oxide additive. Benefiting from its 3D porous structure, in‐built radical scavenger, and uniform thermal distribution, the obtained separator enables a near‐single Li+ migration (tLi+ = 0.8) by blocking large‐size anions, driving the LiNi0.8Mn0.1Co0.1O2/Li metal batteries to 188.8 mAh g−1 at 0.2 C, and demonstrating a capacity retention of 82.2% versus 41.4% for commercial polyolefin separators after 200 cycles, as well as excellent dendrite‐suppressing capabilities by reducing localized temperature hotspots and enabling sufficient mass transfer. This work also suggests a new alternative pathway for stabilizing reactive electrode materials for other high‐energy battery systems.
A porous but highly thermal conductive membrane with an in‐built stabilizer and near‐single Li+ migration enables the quenching of highly reactive free radicals for the structural stablization of Ni‐rich cathodes, and restrains the uneven Li stripping/deposition caused by temperature variation induced changes in current density and Li+ supply.
To find potential alkaline-earth metal-doped aromatic superconductors and clarify the origin of superconductivity in metal-doped phenanthrene (PHN) systems, we have systematically investigated the ...crystal and electronic structures of bivalent metal (Mg, Ca, Sr and Ba)-doped PHNs by first-principles calculations. The results show that only Ba 1.5 PHN can satisfy the conditions of both thermodynamic stability and metallization. We predicted that Ba 1.5 PHN is superconducting with the critical temperature of 5.3 K. Based on the metal atomic radius and electronegativity and combined with monovalent metal- and trivalent metal-doped PHNs, the relations among charge transfer, metallization, and superconductivity were analyzed. The results indicate that the electronegativity of the metal element rather than the atomic radius is predominant in the charge transfer and superconductivity of metal-doped phenanthrene.
The material choice, layer thickness, and twist angle widely enrich the family of van der Waals heterostructures (vdWHs), providing multiple degrees of freedom to engineer their optical and ...electronic properties. The moiré patterns in vdWHs create a periodic potential for electrons and excitons to yield many interesting phenomena, such as Hofstadter butterfly spectrum and moiré excitons. Here, in the as-grown/transferred twisted bilayer MoS2 (tBLMs), one of the simplest prototypes of vdWHs, we show that the periodic potentials of moiré patterns also modify the properties of phonons of its monolayer MoS2 constituent to generate Raman modes related to moiré phonons. These Raman modes correspond to zone-center phonons in tBLMs, which are folded from the off-center phonons in monolayer MoS2. However, the folded phonons related to crystallographic superlattices are not observed in the Raman spectra. By varying the twist angle, the moiré phonons of tBLM can be exploited to map the phonon dispersions of the monolayer constituent. The lattice dynamics of the moiré phonons are modulated by the patterned interlayer coupling resulting from periodic potential of moiré patterns, as confirmed by density functional theory calculations. The Raman intensity related to moiré phonons in all tBLMs are strongly enhanced when the excitation energy approaches the C exciton energy. This study can be extended to various vdWHs to deeply understand their Raman spectra, moiré phonons, lattice dynamics, excitonic effects, and interlayer coupling.
Abstract
Non-Hermitian (NH) quantum system recently have attracted a lots of attentions theoretically and experimentally. However, the results based on the single-particle picture may not apply to ...understand the property of NH many-body system. How the property of quantum many-body system especially the phase transition will be affected by the non-Hermiticity remains unclear. Here we study NH quantum contact process (QCP) model, whose effective Hamiltonian is derived from Lindbladian master equation. We show that there is a continuous phase transition induced by the non-Hermiticity in QCP. We also determine the critical exponents
β
of order parameter,
γ
of susceptibility and study the correlation and entanglement near phase transition point. We observe that the order parameter and susceptibility display infinitely singularity even for finite size system, since non-Hermiticity endow many-body system with different singular behavior from classical phase transition. Moreover our results show that the phase transition have no counterpart in Hermitian case and belongs to completely different universality class.
Light–matter interaction involving magnetic resonance at optical frequencies has recently been extensively investigated for the development of optical metamaterials. Nevertheless, effective ...manipulation of magnetic dipole transitions at optical frequencies is rarely demonstrated. Herein is reported on an aerosol‐spray method for the gram‐scale production of all‐dielectric europium‐doped sub‐micrometer zirconia spheres, which support strong magnetic Mie resonances. In contrast to previous structures where magnetic dipole emitters are positioned outside dielectric nanoresonators, this structure offers an unprecedented opportunity for the light emitters to access the strong magnetic field within the dielectric nanoresonator. This unique architecture allows the magnetic emission from the doped europium ions to be effectively manipulated. Moreover, in gold nanosphere–europium‐doped zirconia sphere heterostructures, the electric dipole emissions of the europium ions are enhanced strongly by the plasmon resonance of the gold nanospheres, while the magnetic dipole emission is weakly affected, suggesting much weaker interaction between the magnetic dipole transition and the electric resonance. This work demonstrates the feasibility of using all‐dielectric nanoresonators for selectively manipulating the magnetic dipole emissions from embedded quantum emitters. In addition, this cost‐effective and productive synthesis method opens up many possibilities for the wide use of lanthanide‐doped dielectric nanoresonators in the field of nanophotonics.
All‐dielectric europium‐doped sub‐micrometer zirconia spheres are prepared by a cost‐effective and highly productive aerosol‐spray method. They support strong magnetic Mie resonances and offer an unprecedented opportunity for the light emitters to access the strong magnetic field within the dielectric nanoresonator. This unique architecture allows the magnetic emission from the doped europium ions to be effectively manipulated.
The two-dimensional (2D) superconducting state is a fragile state of matter susceptible to quantum phase fluctuations. Although superconductivity has been observed in ultrathin metal films down to a ...few layers, it is still not known whether a single layer of ordered metal atoms, which represents the ultimate 2D limit of a crystalline film, could be superconducting. Here we report scanning tunnelling microscopy measurements on single atomic layers of Pb and In grown epitaxially on Si(111) substrate, and demonstrate unambiguously that superconductivity does exist at such a 2D extreme. The film shows a superconducting transition temperature of 1.83 K for an atom areal density n=10.44 Pb atoms nm−2, 1.52 K for n=9.40 Pb atoms nm−2 and 3.18 K for n=9.40 In atoms nm−2, respectively. We confirm the occurrence of superconductivity by the presence of superconducting vortices under magnetic field. In situ angle-resolved photoemission spectroscopy measurements reveal that the observed superconductivity is due to the interplay between the Pb-Pb (In-In) metallic and the Pb-Si (In-Si) covalent bondings.
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