Biallelic NARS2 variants are a novel cause of syndromic neonatal diabetes

被引：0
|
作者：
Donis, R. [1 ]
Jeffery, N. M. [1 ]
Wakeling, M. [1 ]
Hattersley, A. T. [1 ]
Flanagan, S. E. [1 ]
De Franco, E. [1 ]
机构：
[1] Univ Exeter, Inst Biomed & Clin Sci, Exeter, England
来源：
DIABETIC MEDICINE | 2023年 / 40卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P52
引用
收藏
页数：2
相关论文
共 50 条
  • [1] Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome
    Yagasaki, Hideaki
    Sano, Fumikazu
    Narusawa, Hiromune
    Watanabe, Daisuke
    Kaga, Yoshimi
    Kobayashi, Koji
    Asano, Yoshihiro
    Nagata, Miho
    Yonei, Ayumi
    Inukai, Takeshi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (08) : 2466 - 2471
  • [2] Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24
    Zhang, Yi
    Zhao, Xiangyue
    Xu, Yufei
    Chen, Lina
    Li, Niu
    Yao, Ruen
    Wang, Xiumin
    Wang, Jian
    Yu, Tingting
    TRANSLATIONAL PEDIATRICS, 2022, 11 (04) : 448 - 457
  • [3] Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants
    J. Finsterer
    neurogenetics, 2022, 23 : 73 - 74
  • [4] Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants
    Finsterer, J.
    NEUROGENETICS, 2022, 23 (01) : 73 - 74
  • [5] Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations
    Hu, Wenjing
    Fang, Hongjun
    Peng, Yu
    Li, Li
    Guo, Danni
    Tang, Jingwen
    Yi, Jurong
    Liu, Qingqing
    Qin, Wei
    Wu, Liwen
    Ning, Zeshu
    FRONTIERS IN NEUROSCIENCE, 2022, 16
  • [6] Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
    Diane Doummar
    Christel Dentel
    Romane Lyautey
    Julia Metreau
    Boris Keren
    Nathalie Drouot
    Ludivine Malherbe
    Viviane Bouilleret
    Jérémie Courraud
    Maria Paola Valenti-Hirsch
    Lorella Minotti
    Blandine Dozieres-Puyravel
    Séverine Bär
    Julia Scholly
    Elise Schaefer
    Caroline Nava
    Thomas Wirth
    Hala Nasser
    Marie de Salins
    Anne de Saint Martin
    Marie Thérèse Abi Warde
    Philippe Kahane
    Edouard Hirsch
    Mathieu Anheim
    Sylvie Friant
    Jamel Chelly
    Cyril Mignot
    Gabrielle Rudolf
    European Journal of Human Genetics, 2020, 28 : 1403 - 1413
  • [7] Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
    Doummar, Diane
    Dentel, Christel
    Lyautey, Romane
    Metreau, Julia
    Keren, Boris
    Drouot, Nathalie
    Malherbe, Ludivine
    Bouilleret, Viviane
    Courraud, Jeremie
    Valenti-Hirsch, Maria Paola
    Minotti, Lorella
    Dozieres-Puyravel, Blandine
    Baer, Severine
    Scholly, Julia
    Schaefer, Elise
    Nava, Caroline
    Wirth, Thomas
    Nasser, Hala
    de Salins, Marie
    de Saint Martin, Anne
    Warde, Marie Therese Abi
    Kahane, Philippe
    Hirsch, Edouard
    Anheim, Mathieu
    Friant, Sylvie
    Chelly, Jamel
    Mignot, Cyril
    Rudolf, Gabrielle
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (10) : 1403 - 1413
  • [8] A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes
    Donis, Russell
    Patel, Kashyap A.
    Wakeling, Matthew N.
    Johnson, Matthew B.
    Amoli, Masha M.
    Yildiz, Melek
    Akcay, Teoman
    Aspi, Irani
    Yong, James
    Yaghootkar, Hanieh
    Weedon, Michael N.
    Hattersley, Andrew T.
    Flanagan, Sarah E.
    De Franco, Elisa
    DIABETIC MEDICINE, 2025, 42 (03)
  • [9] Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review
    Yang, Nuo
    Chen, Limin
    Zhang, Yanfeng
    Wu, Xuemei
    Hao, Yunpeng
    Yang, Fan
    Yang, Zuozhen
    Liang, Jianmin
    BMC PEDIATRICS, 2024, 24 (01)
  • [10] Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review
    Nuo Yang
    Limin Chen
    Yanfeng Zhang
    Xuemei Wu
    Yunpeng Hao
    Fan Yang
    Zuozhen Yang
    Jianmin Liang
    BMC Pediatrics, 24
12345