The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy

被引：17

作者：

Samanta, Debopam ^{[1
]}

Ramakrishnaiah, Raghu ^{[2
]}

Schaefer, Bradley ^{[3
]}

机构：

[1] Univ Arkansas Med Sci, Dept Pediat, Child Neurol Div, 1 Childrens Way, Little Rock, AR 72202 USA

[2] Univ Arkansas Med Sci, Div Neuroradiol & Pediat Radiol, Little Rock, AR 72205 USA

[3] Univ Arkansas Med Sci, Dept Pediat, Div Genet, Little Rock, AR 72205 USA

来源：

ACTA NEUROLOGICA BELGICA | 2020年 / 120卷 / 02期

关键词：

SPECTRUM;

D O I：

10.1007/s13760-019-01122-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：447 / 450

页数：4

共 7 条

[1] Cerebro-cerebellar circuits in autism spectrum disorder
D'Mello, Anila M.
Stoodley, Catherine J.
[J]. FRONTIERS IN NEUROSCIENCE, 2015, 9
[2] Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism
Dentici, Maria Lisa
Niceta, Marcello
Pantaleoni, Francesca
Barresi, Sabina
Bencivenga, Paola
Dallapiccola, Bruno
Digilio, Maria Cristina
Tartaglia, Marco
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (07) : 1965 - 1969
[3] 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
[J]. JOURNAL OF HUMAN GENETICS, 2015, 60 (05) : 277 - 279
[4] Matsumura Kensuke, 2016, J Mol Psychiatry, V4, P1, DOI 10.1186/s40303-016-0016-x
[5] Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Stessman, Holly A. F.
Willemsen, Marjolein H.
Fenckova, Michaela
Penn, Osnat
Hoischen, Alexander
Xiong, Bo
Wang, Tianyun
Hoekzema, Kendra
Vives, Laura
Voge, Ida
Brunner, Han G.
van der Burgt, Ineke
Ockeloen, Charlotte W.
Schuurs-Hoeijmakers, Janneke H.
Wassink-Ruiter, Jolien S. Klein
Stumpel, Connie
Stevens, Servi J. C.
Vles, Hans S.
Marcelis, Carlo M.
van Bokhoven, Hans
Cantagrel, Vincent
Colleaux, Laurence
Nicouleau, Michael
Lyonnet, Stanislas
Bernier, Raphael A.
Gerdts, Jennifer
Coe, Bradley P.
Romano, Corrado
Alberti, Antonino
Grillo, Lucia
Scuderi, Carmela
Nordenskjold, Magnus
Kvarnung, Malin
Guo, Hui
Xia, Kun
Piton, Amelie
Gerard, Benedicte
Genevieve, David
Delobel, Bruno
Lehalle, Daphne
Perrin, Laurence
Prieur, Fabienne
Thevenon, Julien
Gecz, Jozef
Shaw, Marie
Pfundt, Rolph
Keren, Boris
Jacquette, Aurelia
Schenck, Annette
Eichler, Evan E.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (03) : 541 - 552
[6] POGZ truncating alleles cause syndromic intellectual disability
White, Janson
Beck, Christine R.
Harel, Tamar
Posey, Jennifer E.
Jhangiani, Shalini N.
Tang, Sha
Farwell, Kelly D.
Powis, Zoe
Mendelsohn, Nancy J.
Baker, Janice A.
Pollack, Lynda
Mason, Kati J.
Wierenga, Klaas J.
Arrington, Daniel K.
Hall, Melissa
Psychogios, Apostolos
Fairbrother, Laura
Walkiewicz, Magdalena
Person, Richard E.
Niu, Zhiyv
Zhang, Jing
Rosenfeld, Jill A.
Muzny, Donna M.
Eng, Christine
Beaudet, Arthur L.
Lupski, James R.
Boerwinkle, Eric
Gibbs, Richard A.
Yang, Yaping
Xia, Fan
Sutton, V. Reid
[J]. GENOME MEDICINE, 2016, 8
[7] De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
Ye, Yizhou
Cho, Megan T.
Retterer, Kyle
Alexander, Nora
Ben-Omran, Tawfeg
Al-Mureikhi, Mariam
Cristian, Ingrid
Wheeler, Patricia G.
Crain, Carrie
Zand, Dina
Weinstein, Veronique
Vernon, Hilary J.
McClellan, Rebecca
Krishnamurthy, Vidya
Vitazka, Patrik
Milian, Francisca
Chung, Wendy K.
[J]. COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2015, 1 (01):

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