Objective To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICALl gene.Methods Clinical data of the...Objective To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICALl gene.Methods Clinical data of the patient with autosomal dominant lateral temporal lobe epilepsy caused by MICALl gene variation diagnosed in Children's Hospital of Soochow University in August 2019 were collected.The whole exome sequencing was performed on the core members of the family,and the characteristics of gene variations were analyzed.Results The proband,a 10 years and 5 months old boy,was admitted to the hospital because of"intermittent convulsions for 7 years".The clinical manifestations included focal or generalized tonic-clonic seizures and hearing aura,with normal language and intellectual development.No abnormalities were found in the T,and fluid attenuated inversion recovery sequences of the cranial 3.0 T magnetic resonance imaging and 3D thinslice magnetic resonance imaging.Long-range video electroencephalogram showed the distribution of spinous and slow spinous waves in the left frontal and temporal areas.The results of whole exome gene sequencing in the core family members showed heterozygous de novo missense variation in the MICALI gene of the proband(NM_022765):c.763G>T(exon6)(p.Val255Leu)that had not been reported.According to American College of Medical Geneticsand Genomicssand Association for Molecular Pathology guidelines(2015),the mutation was considered potentially pathogenic.The application of antiepilepticdrugsswaseffectivein controllingepilepticcseizures.ConclusionAuditory symptoms are main clinical manifestations for the child with autosomal dominant lateral temporal lobe epilepsy.Antiepileptic drugs can effectively control epileptic seizures of the child,and the MICALl gene c.763G>T(p.Val255Leu)mutation is the genetic cause of the proband.展开更多
文摘由于量子计算机的飞速发展,现代密码学面临着巨大的挑战。为了实现抗量子计算机攻击的加密,人们提出了许多新的加密方案,并对后量子密码学(Post-Quantum Cryptography,PQC)开展了标准化进程。Leighton-Micali签名(Leighton-Micali sig-nature,LMS)是一种基于哈希的后量子签名方案,其私钥和公钥尺寸都较小,且安全性已被充分研究。LMS被互联网工程小组(Internet Engineering Task Force,IETF)选为PQC签名协议的标准方案,同时被美国国家标准技术局(National Institute of Standards and Technology,NIST)选为一种PQC过渡方案。然而,密钥生成过程中的效率低下,成为了LMS实际应用中的瓶颈。在本文中,我们首次对LMS进行基于FPGA的硬件实现与加速。首先,在不损失安全性的基础上,我们将LMS中的主要哈希函数由SHA2替换为SHA3函数。其次,我们设计了一个软硬件协同系统,将核心的哈希运算用硬件进行实现,该系统在消耗较少资源的前提下,可完成LMS协议的所有过程:密钥生成、签名与验证。该系统为物联网(Internet of things,IoT)场景下资源受限的LMS应用提供了参考。接着,我们提出了一个高速的密钥生成架构来加速LMS。该架构中具有可配置性,支持LMS的所有参数集,内部的哈希模块根据使用场景进行设计与部署,且并行度经过精心设计,以使得架构同时达到低延迟和高硬件利用率。此外,设计中的控制逻辑被设计为在适应不同参数集的情况下保持一定程度的恒定功率,以抵御功率分析攻击。该架构使用Verilog实现,并在Xilinx Zynq UltraScale+MPSoC ZCU104 FPGA平台上实验。实验结果表明,与在Intel(R)Core(TM)i7-6850K 3.60GHz CPU上启用多线程的目前较优软件实现相比,本文中的设计在不同参数配置下可实现55x~2091x的加速;与最新的各平台LMS工作相比,本文中设计可实现超过17x的加速;与相近方案的FPGA工作相比,本文中设计可实现约70x的加速。
文摘Objective To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICALl gene.Methods Clinical data of the patient with autosomal dominant lateral temporal lobe epilepsy caused by MICALl gene variation diagnosed in Children's Hospital of Soochow University in August 2019 were collected.The whole exome sequencing was performed on the core members of the family,and the characteristics of gene variations were analyzed.Results The proband,a 10 years and 5 months old boy,was admitted to the hospital because of"intermittent convulsions for 7 years".The clinical manifestations included focal or generalized tonic-clonic seizures and hearing aura,with normal language and intellectual development.No abnormalities were found in the T,and fluid attenuated inversion recovery sequences of the cranial 3.0 T magnetic resonance imaging and 3D thinslice magnetic resonance imaging.Long-range video electroencephalogram showed the distribution of spinous and slow spinous waves in the left frontal and temporal areas.The results of whole exome gene sequencing in the core family members showed heterozygous de novo missense variation in the MICALI gene of the proband(NM_022765):c.763G>T(exon6)(p.Val255Leu)that had not been reported.According to American College of Medical Geneticsand Genomicssand Association for Molecular Pathology guidelines(2015),the mutation was considered potentially pathogenic.The application of antiepilepticdrugsswaseffectivein controllingepilepticcseizures.ConclusionAuditory symptoms are main clinical manifestations for the child with autosomal dominant lateral temporal lobe epilepsy.Antiepileptic drugs can effectively control epileptic seizures of the child,and the MICALl gene c.763G>T(p.Val255Leu)mutation is the genetic cause of the proband.
