RESUMEN
Developmental and epileptic encephalopathies (DEEs) are early-onset conditions that cause intractable seizures and developmental delays. Missense variants in Gamma-aminobutyric acid type A receptor (GABAAR) subunits commonly cause DEEs. Ahring et al. (2022) showed a variant in the gene that encodes the delta subunit (GABRD) is strongly associated with the gain-of-function of extrasynaptic GABAAR. Here, we report the generation of two patient-specific human induced pluripotent stem cells (hiPSC) lines with (i) a de novo variant and (ii) a maternal variant, both for the pathogenic GABRD c.872 C>T, (p.T291I). The variants in the generated cell line were corrected using the CRISPR-Cas9 gene editing technique (respective isogenic control lines).
Asunto(s)
Epilepsia , Células Madre Pluripotentes Inducidas , Humanos , Receptores de GABA-A/genética , Receptores de GABA-A/metabolismo , Células Madre Pluripotentes Inducidas/metabolismo , Epilepsia/genética , Mutación Missense , Edición GénicaRESUMEN
We report on the direct observation of the thermoelectric transport in a nondegenerate electron system trapped on the surface of liquid helium. The microwave-induced excitation of the vertical transitions of electrons between the surface-bound states results in their lateral flow, which we were able to detect by employing a segmented electrode configuration. We show that this flow of electrons arises due to the Seebeck effect. Our experimental results are in good agreement with the theoretical calculations based on kinetic equations. This demonstrates the importance of the fast electron-electron collisions, which, in particular, leads to the violation of the Wiedemann-Franz law in this system.
RESUMEN
We report the first direct observation of the decay of the excited-state population in electrons trapped on the surface of liquid helium. The relaxation dynamics, which are governed by inelastic scattering processes in the system, are probed by the real-time response of the electrons to a pulsed microwave excitation. Comparison with theoretical calculations allows us to establish the dominant mechanisms of inelastic scattering for different temperatures. The longest measured relaxation time is around 1 µs at the lowest temperature of 135 mK, which is determined by the inelastic scattering due to the spontaneous two-ripplon emission process. Furthermore, the image-charge response shortly after applying microwave radiation reveals interesting population dynamics due to the multisubband structure of the system.
RESUMEN
We propose and experimentally demonstrate a new spectroscopic method, image-charge detection, for the Rydberg states of surface electrons on liquid helium. The excitation of the Rydberg states of the electrons induces an image current in the circuit to which the electrons are capacitively coupled. In contrast to the conventional microwave absorption measurement, this method makes it possible to resolve the transitions to high-lying Rydberg states of the surface electrons. We also show that this method can potentially be used to detect quantum states of a single electron, which would pave a way to utilize the quantum states of the surface electrons on liquid helium for quantum computing.
RESUMEN
Two-dimensional electrons in a magnetic field can form new states of matter characterized by topological properties and strong electronic correlations as displayed in the integer and fractional quantum Hall states. In these states, the electron liquid displays several spectacular characteristics, which manifest themselves in transport experiments with the quantization of the Hall resistance and a vanishing longitudinal conductivity or in thermodynamic equilibrium when the electron fluid becomes incompressible. Several experiments have reported that dissipationless transport can be achieved even at weak, non-quantizing magnetic fields when the electrons absorb photons at specific energies related to their cyclotron frequency. Here we perform compressibility measurements on electrons on liquid helium demonstrating the formation of an incompressible electronic state under these resonant excitation conditions. This new state provides a striking example of irradiation-induced self-organization in a quantum system.
RESUMEN
The experimental observation of the strong Coulombic effect on magneto-oscillations of the photoconductivity of surface electrons in liquid helium is reported. The observed broadening of the oscillations and shifts in positions of conductivity extrema with increasing electron density are in good agreement with the linear transport theory, which takes into account an internal electric field of fluctuational origin. These results provide important evidence for identification of the mechanism of the oscillations and zero-resistance states developed in their minima.
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We report on a novel transport phenomenon realized by optical pumping in surface state electrons on helium subjected to perpendicular magnetic fields. The electron dynamics is governed by the photon-induced excitation and scattering-mediated transitions between electric subbands. In a range of magnetic fields, we observe vanishing longitudinal conductivity σ(xx)â0. Our result suggests the existence of radiation-induced zero-resistance states in the nondegenerate 2D electron system.
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We show that electrons on liquid helium display intrinsic bistability of resonant intersubband absorption. The bistability occurs for comparatively weak microwave power. The underlying giant nonlinearity of the many-electron response results from the interplay of the strong short-range electron correlations, the long relaxation time, and the multisubband character of the electron energy spectrum.
RESUMEN
We report the observation of novel magnetoresistance oscillations induced by the resonant intersubband absorption in nondegenerate 2D electrons bound to the surface of liquid 3He. The oscillations are periodic in B-1 and originate from the scattering-mediated transitions of the excited electrons into the Landau levels of the first subband. The structure of the oscillations is affected by the collision broadening of the Landau levels and by many-electron effects.
RESUMEN
Measurements of the dc resistivity of surface-state electrons on liquid helium exposed to microwave radiation are reported. It is shown that the resonant microwave excitation of surface-state electrons is accompanied by a strong increase in their resistivity, which is opposite to the result expected from the previously used two-level model. We show that even a very small fraction of electrons excited to the first excited state and decaying back due to vapor-atom scattering strongly heat the electron system, causing a population of higher subbands. The calculated resistivity change is in good agreement with the observed data.
RESUMEN
We report on experiments in which the pressure oscillation associated with a sound wave is used to explode electron bubbles in liquid helium. Using this technique, we are able to detect the presence of electron bubbles in excited states.