Novel bi-allelic CAD variants cause epileptic encephalopathy responsive to triacetyluridine supplementation

被引：0

作者：

Anderson, Katherine ^{[1
,2
]}

Wiltrout, Kimberly ^{[3
]}

Giummo, Christine ^{[4
]}

Wortmann, Saskia B. ^{[5
]}

Freeze, Hudson ^{[6
]}

del Cano Ochoa, Francisco ^{[7
]}

Ramon, Santiago ^{[7
]}

机构：

[1] Univ Vermont, Dept Pediat, Burlington, VT 05405 USA

[2] Univ Utah, Dept Pediat, Salt Lake City, UT USA

[3] Harvard Med Ctr, Dept Neurol, Boston Childrens Hosp, Boston, MA USA

[4] Univ Vermont, Med Ctr, Dept Pediat, Burlington, VT USA

[5] Paracelsus Med Privatuniv, Univ Klin Kinder & Jugendheilkunde, Salzburg, Austria

[6] Sanford Burnham Prebys, Sanford Childrens Hlth Res Ctr, La Jolla, CA USA

[7] Inst Biomed Valencia, Unidad Estructura Dianas Macromol, Valencia, Spain

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期

关键词：

D O I：

10.1016/j.ymgme.2024.108204

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Poster # 0

引用

页数：1

共 50 条

[1] Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Chatron, Nicolas
Becker, Felicitas
Morsy, Heba
Schmidts, Miriam
Hardies, Katia
Tuysuz, Beyhan
Roselli, Sandra
Najafi, Maryam
Alkaya, Dilek Uludag
Ashrafzadeh, Farah
Nabil, Amira
Omar, Tarek
Maroofian, Reza
Karimiani, Ehsan Ghayoor
Hussien, Haytham
Kok, Fernando
Ramos, Luiza
Gunes, Nilay
Bilguvar, Kaya
Labalme, Audrey
Alix, Eudeline
Sanlaville, Damien
de Bellescize, Julitta
Poulat, Anne-Lise
Moslemi, Ali-Reza
Lerche, Holger
May, Patrick
Lesca, Gaetan
Weckhuysen, Sarah
Tajsharghi, Homa
BRAIN, 2020, 143 : 1447 - 1461
[2] Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermia
Li, Shu
Zhang, Zexin
Xie, Linna
Zhao, Yanqiu
Chen, Hongtai
Zhang, Shijia
Cai, Yixiang
Ren, Bingjie
Liu, Wensheng
Tang, Songxi
Sha, Yanwei
FRONTIERS IN ENDOCRINOLOGY, 2024, 15
[3] Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Hakami, Wejdan
Thabet, Farah
Alhashem, Amal
Alghamdi, Abdulaziz
Alshahwan, Saad
Alkuraya, Fowzan S.
Tabarki, Brahim
NEUROGENETICS, 2024, 25 (02) : 79 - 83
[4] Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Wejdan Hakami
Farah Thabet
Amal Alhashem
Abdulaziz Alghamdi
Saad Alshahwan
Fowzan S. Alkuraya
Brahim Tabarki
Neurogenetics, 2024, 25 : 79 - 83
[5] Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient
Yu, Hao
Wei, Qiao
Luo, Wen-Jiao
Wu, Zhi-Ying
CLINICAL GENETICS, 2021, 100 (06) : 777 - 778
[6] Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Brugger, Melanie
Lauri, Antonella
Zhen, Yan
Gramegna, Laura L.
Zott, Benedikt
Sekulic, Nikolina
Fasano, Giulia
Kopajtich, Robert
Cordeddu, Viviana
Radio, Francesca Clementina
Mancini, Cecilia
Pizzi, Simone
Paradisi, Graziamaria
Zanni, Ginevra
Vasco, Gessica
Carrozzo, Rosalba
Palombo, Flavia
Tonon, Caterina
Lodi, Raffaele
Morgia, Chiara La
Arelin, Maria
Blechschmidt, Cristiane
Finck, Tom
Sorensen, Vigdis
Kreiser, Kornelia
Strobl-Wildemann, Gertrud
Daum, Hagit
Michaelson-Cohen, Rachel
Ziccardi, Lucia
Zampino, Giuseppe
Prokisch, Holger
Jamra, Rami Abou
Fiorini, Claudio
Arzberger, Thomas
Winkelmann, Juliane
Caporali, Leonardo
Carelli, Valerio
Stenmark, Harald
Tartaglia, Marco
Wagner, Matias
AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (03) : 594 - 613
[7] Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
Kloeckner, Chiara
Murray, J. Pedro Fernandez
Tavasoli, Mahtab
Sticht, Heinrich
Stoltenburg-Didinger, Gisela
Scholle, Leila Motlagh
Bakhtiari, Somayeh
Kruer, Michael C.
Darvish, Hossein
Firouzabadi, Saghar Ghasemi
Pagnozzi, Alex
Shukla, Anju
Girisha, Katta Mohan
Narayanan, Dhanya Lakshmi
Kaur, Parneet
Maroofian, Reza
Zaki, Maha S.
Noureldeen, Mahmoud M.
Merkenschlager, Andreas
Gburek-Augustat, Janina
Cali, Elisa
Banu, Selina
Nahar, Kamrun
Efthymiou, Stephanie
Houlden, Henry
Abou Jamra, Rami
Williams, Jason
McMaster, Christopher R.
Platzer, Konrad
BRAIN, 2022, : 1916 - 1923
[8] Bi-allelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Oh, Rachel Youjin
Deshwar, Ashish
Sabha, Nesrin
Tropak, Michael
Hou, Huayun
Yuki, Kyoko
Wilson, Michael
Rump, Patrick
Lunsing, Roelineke J.
Elserafy, Noha
Chung, Clara
Hewson, Stacy
Klein-Rodewald, Tanja
Calzada-Wack, J.
Sanz-Moreno, Adrian
Kraiger, Markus
Marschall, Susan
Fuchs, Helmut
Gailus-Durner, Valerie
Marwaha, Ashish
de Angelis, Martin Hrabe
Dowling, James
Schulze, Andreas
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 69 - 70
[9] Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
Ansar, Muhammad
Chung, Hyung-lok
Taylor, Rachel L.
Nazir, Aamir
Imtiaz, Samina
Sarwar, Muhammad T.
Manousopoulou, Alkistis
Makrythanasis, Periklis
Saeed, Sondas
Falconnet, Emilie
Guipponi, Michel
Pournaras, Constantin J.
Ansari, Maqsood A.
Ranza, Emmanuelle
Santoni, Federico A.
Ahmed, Jawad
Shah, Inayat
Gul, Khitab
Black, Graeme C. M.
Bellen, Hugo J.
Antonarakis, Stylianos E.
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (04) : 568 - 578
[10] Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility
Li, Kuokuo
Wang, Guanxiong
Lv, Mingrong
Wang, Jieyu
Gao, Yang
Tang, Fei
Xu, Chuan
Yang, Wen
Yu, Hui
Shao, Zhongmei
Geng, Hao
Tan, Qing
Shen, Qunshan
Tang, Dongdong
Ni, Xiaoqing
Wang, Tianjuan
Song, Bing
Wu, Huan
Huo, Ran
Zhang, Zhiguo
Xu, Yuping
Zhou, Ping
Tao, Fangbiao
Wei, Zhaolian
He, Xiaojin
Cao, Yunxia
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2022, 39 (01) : 251 - 259

← 1 2 3 4 5 →