Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report

被引：0
|
作者：
Catarina Granjo Morais
Rita Quental
Lara Lourenço
Micaela Guardiano
Cármen Silva
Miguel Leão
机构：
[1] Centro Hospitalar Universitário São João,Department of Pediatrics
[2] Centro Hospitalar Universitário São João,Department of Medical Genetics
[3] Centro Hospitalar Universitário São João,Unit of Pediatric Neurodevelopment, Department of Pediatrics
来源：
Egyptian Journal of Medical Human Genetics | / 24卷
关键词：
Autism spectrum disorder; Autistic disorder; Epilepsy; Genetic testing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
    Maria Barington
    Lotte Risom
    Jakob Ek
    Peter Uldall
    Elsebet Ostergaard
    European Journal of Human Genetics, 2018, 26 : 1388 - 1391
  • [22] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
    Fukai, Ryoko
    Hiraki, Yoko
    Yofune, Hiroko
    Tsurusaki, Yoshinori
    Nakashima, Mitsuko
    Saitsu, Hirotomo
    Tanaka, Fumiaki
    Miyake, Noriko
    Matsumoto, Naomichi
    JOURNAL OF HUMAN GENETICS, 2015, 60 (05) : 277 - 279
  • [23] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
    Ryoko Fukai
    Yoko Hiraki
    Hiroko Yofune
    Yoshinori Tsurusaki
    Mitsuko Nakashima
    Hirotomo Saitsu
    Fumiaki Tanaka
    Noriko Miyake
    Naomichi Matsumoto
    Journal of Human Genetics, 2015, 60 : 277 - 279
  • [24] A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
    Lin, Kao-Min
    Su, Geng
    Wang, Fengpeng
    Zhang, Xiaobin
    Wang, Yuanqing
    Ren, Jun
    Wang, Xin
    Yao, Yi
    Zhou, Ying
    BMC PEDIATRICS, 2019, 19 (01)
  • [25] De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report
    Tung, Moon Ley
    Romoser, Shelby
    Kotlarek, Jaclyn
    Warner, Taylor
    Calhoun, Amy
    Safina, Nicole
    GENETICS IN MEDICINE, 2022, 24 (03) : S166 - S166
  • [26] A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
    Kao-Min Lin
    Geng Su
    Fengpeng Wang
    Xiaobin Zhang
    Yuanqing Wang
    Jun Ren
    Xin Wang
    Yi Yao
    Ying Zhou
    BMC Pediatrics, 19
  • [27] De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy
    Latsko, Maeson S.
    Koboldt, Daniel C.
    Franklin, Samuel J.
    Hickey, Scott E.
    Williamson, Rachel K.
    Garner, Shannon
    Ostendorf, Adam P.
    Lee, Kristy
    White, Peter
    Wilson, Richard K.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (04):
  • [28] Case report: GNRH treatment for hypersexual behaviour in a child with autism spectrum disorder
    Eyuboglu, Murat
    Eyuboglu, Damla
    Yilmaz, Gulay Can
    PSYCHIATRY AND CLINICAL PSYCHOPHARMACOLOGY, 2018, 28 (04) : 464 - 466
  • [29] Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy
    Verbinnen, Iris
    Procknow, Sara S. S.
    Lenaerts, Lisa
    Reynhout, Sara
    Mehregan, Aujan
    Ulens, Chris
    Janssens, Veerle
    King, Katherine A. A.
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2022, 10
  • [30] Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report
    Alshareet, Mohammed
    Alakkas, Aljoharah
    Alsinaidi, Omar A.
    Bawazeer, Shahad
    Peer-Zada, Abdul Ali
    BMJ NEUROLOGY OPEN, 2024, 6 (01)
12345