Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

被引：0

作者：

Luppe, Johannes ^{[1
]}

Sticht, Heinrich ^{[2
]}

Lecoquierre, Francois ^{[3
]}

Goldenberg, Alice ^{[3
]}

Gorman, Kathleen ^{[4
]}

Agolini, Emanuele ^{[5
]}

Briuglia, Silvana ^{[6
]}

Kuismin, Outi ^{[7
]}

Marcelis, Carlo ^{[8
]}

Vitobello, Antonio ^{[9
]}

Denomme-Pichon, Anne-Sophie ^{[9
]}

Julia, Sophie ^{[10
]}

Lemke, Johannes ^{[1
]}

Abou Jamra, Rami ^{[1
]}

Platzer, Konrad ^{[1
]}

机构：

[1] Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany

[2] Friedrich Alexander Univ Erlangen Nuernberg, Inst Biochem, Erlangen, Germany

[3] Hosp Ctr Univ Rouen, Lab Mol Genet, Rouen, France

[4] Temple St Childrens Univ Hosp, Dublin, Ireland

[5] Bambino Gesu Pediat Hosp, Rome, Italy

[6] Clin Genet, Messina, Italy

[7] Inst Mol Med Finland, Helsinki, Finland

[8] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[9] Univ Burgundy Franche Comte, Dijon, France

[10] CHU Toulouse, Federat Inst Biol, Toulouse, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P09.029.A

引用

页码：455 / 456

页数：2

共 50 条

[41] Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
von Elsner, Leonie
Chai, Guoliang
Schneeberger, Pauline E.
Harms, Frederike L.
Casar, Christian
Qi, Minyue
Alawi, Malik
Abdel-Salam, Ghada M. H.
Zaki, Maha S.
Arndt, Florian
Yang, Xiaoxu
Stanley, Valentina
Hempel, Maja
Gleeson, Joseph G.
Kutsche, Kerstin
BRAIN, 2022, 145 (04) : 1551 - 1563
[42] Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder
Nazmina, Gul
Khan, Amjad
Jiang, Jiuhong
Miao, Zhichao
Khan, Shahid Niaz
Khan, Muhammad Ismail
Shah, Abdul Haleem
Shah, Aysha Haleem
Khisroon, Muhammad
Haack, Tobias B.
CLINICAL GENETICS, 2024, 105 (04) : 423 - 429
[43] De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena
Edani, Ban H.
Martinelli, Simone
Hansikova, Hana
Eklund, Erik A.
Caputi, Caterina
Masuelli, Laura
Corsten-Janssen, Nicole
Srour, Myriam
Oegema, Renske
Bosch, Danielle G. M.
Ellis, Colin A.
Amlie-Wolf, Louise
Accogli, Andrea
Atallah, Isis
Averdunk, Luisa
Baranano, Kristin W.
Bei, Roberto
Bagnasco, Irene
Brusco, Alfredo
Demarest, Scott
Alaix, Anne-Sophie
Di Bonaventura, Carlo
Distelmaier, Felix
Elmslie, Frances
Gan-Or, Ziv
Good, Jean-Marc
Gripp, Karen
Kamsteeg, Erik-Jan
Macnamara, Ellen
Marcelis, Carlo
Mercier, Noelle
Peeden, Joseph
Pizzi, Simone
Pannone, Luca
Shinawi, Marwan
Toro, Camilo
Verbeek, Nienke E.
Venkateswaran, Sunita
Wheeler, Patricia G.
Zdrazilova, Lucie
Zhang, Rong
Zorzi, Giovanna
Guerrini, Renzo
Sessa, William C.
Lefeber, Dirk
Tartaglia, Marco
Hamdan, Fadi F.
Grabinska, Kariona A.
Leuzzi, Vincenzo
BRAIN, 2022, 145 (01) : 208 - 223
[44] Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Nuria C. Bramswig
Hermann-Josef Lüdecke
Fadi F. Hamdan
Janine Altmüller
Filippo Beleggia
Nursel H. Elcioglu
Catharine Freyer
Erica H. Gerkes
Yasemin Kendir Demirkol
Kelly G. Knupp
Alma Kuechler
Yun Li
Daniel H. Lowenstein
Jacques L. Michaud
Kristen Park
Alexander P.A. Stegmann
Hermine E. Veenstra-Knol
Thomas Wieland
Bernd Wollnik
Hartmut Engels
Tim M. Strom
Tjitske Kleefstra
Dagmar Wieczorek
Human Genetics, 2017, 136 : 821 - 834
[45] Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Bramswig, Nuria C.
Luedecke, Hermann-Josef
Hamdan, Fadi F.
Altmueller, Janine
Beleggia, Filippo
Elcioglu, Nursel H.
Freyer, Catharine
Gerkes, Erica H.
Demirkol, Yasemin Kendir
Knupp, Kelly G.
Kuechler, Alma
Li, Yun
Lowenstein, Daniel H.
Michaud, Jacques L.
Park, Kristen
Stegmann, Alexander P. A.
Veenstra-Knol, Hermine E.
Wieland, Thomas
Wollnik, Bernd
Engels, Hartmut
Strom, Tim M.
Kleefstra, Tjitske
Wieczorek, Dagmar
HUMAN GENETICS, 2017, 136 (07) : 821 - 834
[46] Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course
Maroofian, Reza
Gubas, Andrea
Kaiyrzhanov, Rauan
Scala, Marcello
Hundallah, Khalid
Severino, Mariasavina
Abdel-Hamid, Mohamed S.
Rosenfeld, Jill A.
Ebrahimi-Fakhari, Darius
Ali, Zahir
Rahim, Fazal
Houlden, Henry
Tooze, Sharon A.
Alsaleh, Norah S.
Zaki, Maha S.
BRAIN COMMUNICATIONS, 2021, 3 (03)
[47] DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders
Wu, Wu-Chen
Liang, Xiao-Yu
Zhang, Dong -Ming
Jin, Liang
Liu, Zhi-Gang
Zeng, Xiao-Lu
Zhai, Qiong-Xiang
Liao, Wei-Ping
He, Na
Meng, Xiang-Hong
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2024, 116 : 119 - 125
[48] Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Charlotte Herbst
Viktoria Bothe
Meret Wegler
Susanne Axer-Schaefer
Séverine Audebert-Bellanger
Jozef Gecz
Benjamin Cogne
Hagit Baris Feldman
Anselm H. C. Horn
Anna C. E. Hurst
Melissa A. Kelly
Michael C. Kruer
Alina Kurolap
Annie Laquerriere
Megan Li
Paul R. Mark
Markus Morawski
Mathilde Nizon
Tomi Pastinen
Tilman Polster
Pascale Saugier-Veber
Jang SeSong
Heinrich Sticht
Jens T. Stieler
Isabelle Thifffault
Clare L. van Eyk
Pascale Marcorelles
Myriam Vezain-Mouchard
Rami Abou Jamra
Henry Oppermann
Human Genetics, 2024, 143 : 455 - 469
[49] Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Herbst, Charlotte
Bothe, Viktoria
Wegler, Meret
Axer-Schaefer, Susanne
Audebert-Bellanger, Severine
Gecz, Jozef
Cogne, Benjamin
Feldman, Hagit Baris
Horn, Anselm H. C.
Hurst, Anna C. E.
Kelly, Melissa A.
Kruer, Michael C.
Kurolap, Alina
Laquerriere, Annie
Li, Megan
Mark, Paul R.
Morawski, Markus
Nizon, Mathilde
Pastinen, Tomi
Polster, Tilman
Saugier-Veber, Pascale
SeSong, Jang
Sticht, Heinrich
Stieler, Jens T.
Thifffault, Isabelle
van Eyk, Clare L.
Marcorelles, Pascale
Vezain-Mouchard, Myriam
Abou Jamra, Rami
Oppermann, Henry
HUMAN GENETICS, 2024, 143 (03) : 455 - 469
[50] Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Asif, Maria
Khayyat, Arwa Ishaq A.
Alawbathani, Salem
Abdullah, Uzma
Sanner, Anne
Georgomanolis, Theodoros
Haasters, Judith
Becker, Kerstin
Budde, Birgit
Becker, Christian
Thiele, Holger
Baig, Shahid M.
Isidoro-Garcia, Maria
Winter, Dominic
Pogoda, Hans -Martin
Muhammad, Sajjad
Hammerschmidt, Matthias
Kraft, Florian
Kurth, Ingo
Martin, Hilario Gomez
Wagner, Matias
Nuernberg, Peter
Hussain, Muhammad Sajid
GENETICS IN MEDICINE, 2024, 26 (07)

← 1 2 3 4 5 →