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Background: This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett‐like phenotypes. Methods: Targeted next‐generation sequencing (NGS) was performed on 44 Chinese patients with RTT or Rett‐like phenotypes, in whom genetic analysis of MECP2, CDKL5, and FOXG1 was negative. Results: The detection rate was 31.8% (14/44). A de novo pathogenic variant (c.275_276ins AA, p. Cys92*) of KIF1A was identified in a girl with all core features of typical RTT. A patient with atypical RTT was detected having de novo GRIN1 pathogenic variant (c.2337C > A, p. Val793Phe). Additionally, compound heterozygous pathogenic variants of PPT1 gene were detected in a girl, who initially displayed typical RTT features, but progressed into neuronal ceroid lipofuscinoses (NCL) afterwards. Pathogenic variants in KCNQ2, MEF2C, WDR45, TCF4, IQSEC2, and SDHA were also found in our cohort. Conclusions: It is the first time that pathogenic variants of GRIN1 and KIF1A were linked to RTT and Rett‐like profiles. Our findings expanded the genetic heterogeneity of Chinese RTT or Rett‐like patients, and also suggest that some patients with genetic metabolic disease such as NCL, might displayed Rett features initially, and clinical follow‐up is essential for the diagnosis. [ABSTRACT FROM AUTHOR]

Sensitive high‐energy photon detection from UV to X‐ray and high‐resolution array imaging are critical for medical diagnosis, space exploration, and scientific research. The key challenges for high‐performance photodetector and imaging arrays are the effective material and device design strategies for the miniaturization and integration of the device. Here, photon‐controlled diodes (i.e., the detector has rectifying characteristics only under light irradiation) are proposed for high‐resolution and anti‐crosstalk array imaging applications without integrating the switching element. Based on ultra‐wide bandgap semiconductor Ga2O3, the sensitive DUV/X‐ray photon‐controlled diodes are realized by the design of high‐resistance Ga2O3 film and high‐barrier contact. The device exhibits remarkable detection performance, including high photo‐responsivity (168 A W−1) and specific detectivity (1.45 × 1015 Jones) under DUV illumination, as well as a high sensitivity (1.23 × 105 µC Gyair−1 cm−2) under X‐ray light. Moreover, the low dark current and excellent rectification characteristics are obtained. Furthermore, its potential for high‐density and anti‐crosstalk array imaging applications is verified. These results not only bring forth new insights in the implementation of high‐performance DUV/X‐ray photodetector, but also pave a feasible way to realize high pixel density detector array through the simplified fabrication process for high‐resolution imaging applications. [ABSTRACT FROM AUTHOR]