Homozygous variants in SPAST cause severe epileptic encephalopathy

被引：0
|
作者：
Degoutin, Manon [1 ]
Bataille, Marine Guillaud [2 ]
Lacombe, Didier [1 ,3 ]
Angelini, Chloe [1 ,4 ,5 ]
Goizet, Cyril [1 ,4 ,5 ]
机构：
[1] CHU Bordeaux, Serv Genet Med, Hop Pellegrin, Bordeaux, France
[2] Sorbonne Univ, Hop Pitie Salpetriere, AP HP, UF Neurogenet Mol & Cellulaire,Ctr Genet Mole & C, Paris, France
[3] Univ Bordeaux, MRGM, INSERM, U1211, F-33000 Bordeaux, France
[4] CHU Bordeaux, Ctr Reference Malad Rares Neurogenet, Serv Genet Med, Bordeaux, France
[5] Univ Bordeaux, CNRS, INCIA, UMR 5287,NRGen Team, F-33000 Bordeaux, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：
P10.052.D
引用
收藏
页码：498 / 498
页数：1
相关论文
共 50 条
  • [31] Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
    Strehlow, Vincent
    Rieubland, Claudine
    Gallati, Sabina
    Kim, Sukhan
    Myers, Scott J.
    Peterson, Vincent
    Ramsey, Amy J.
    Teuscher, Daniel D.
    Traynelis, Stephen F.
    Lemke, Johannes R.
    EPILEPSIA, 2022, 63 (10) : E132 - E137
  • [32] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
    Hirotomo Saitsu
    Ryoko Fukai
    Bruria Ben-Zeev
    Yasunari Sakai
    Masakazu Mimaki
    Nobuhiko Okamoto
    Yasuhiro Suzuki
    Yukifumi Monden
    Hiroshi Saito
    Barak Tziperman
    Michiko Torio
    Satoshi Akamine
    Nagahisa Takahashi
    Hitoshi Osaka
    Takanori Yamagata
    Kazuyuki Nakamura
    Yoshinori Tsurusaki
    Mitsuko Nakashima
    Noriko Miyake
    Masaaki Shiina
    Kazuhiro Ogata
    Naomichi Matsumoto
    European Journal of Human Genetics, 2016, 24 : 129 - 134
  • [33] A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
    Brugger, Melanie
    Becker-Dettling, Fiona
    Brunet, Theresa
    Strom, Tim
    Meitinger, Thomas
    Lurz, Eberhard
    Borggraefe, Ingo
    Wagner, Matias
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2021, 8 (01): : 278 - 283
  • [34] A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels
    Yoav Zehavi
    Anja von Renesse
    Etty Daniel-Spiegel
    Yonatan Sapir
    Luci Zalman
    Ilana Chervinsky
    Markus Schuelke
    Rachel Straussberg
    Ronen Spiegel
    Metabolic Brain Disease, 2017, 32 : 2131 - 2137
  • [35] A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels
    Zehavi, Yoav
    von Renesse, Anja
    Daniel-Spiegel, Etty
    Sapir, Yonatan
    Zalman, Luci
    Chervinsky, Ilana
    Schuelke, Markus
    Straussberg, Rachel
    Spiegel, Ronen
    METABOLIC BRAIN DISEASE, 2017, 32 (06) : 2131 - 2137
  • [36] Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy
    Alsemari, Abdulaziz
    Guzman-Vega, Francisco J.
    Meyer, Brian F.
    Arold, Stefan T.
    PEDIATRIC NEUROLOGY, 2024, 151 : 68 - 72
  • [37] Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
    Krenn, Martin
    Knaus, Alexej
    Westphal, Dominik S.
    Wortmann, Saskia B.
    Polster, Tilman
    Woermann, Friedrich G.
    Karenfort, Michael
    Mayatepek, Ertan
    Meitinger, Thomas
    Wagner, Matias
    Distelmaier, Felix
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (05): : 968 - 973
  • [38] Infantile-Onset Epileptic Encephalopathy - A Treatable Cause
    Jinka, Dasaratha R.
    Lingappa, Lokesh
    Konanki, Ramesh
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2024, 27 (05) : 593 - 595
  • [39] Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
    Bott, Laura C.
    Forouhan, Mitra
    Lieto, Maria
    Sala, Ambre J.
    Ellerington, Ruth
    Johnson, Janel O.
    Speciale, Alfina A.
    Criscuolo, Chiara
    Filla, Alessandro
    Chitayat, David
    Alkhunaizi, Ebba
    Shannon, Patrick
    Nemeth, Andrea H.
    Angelucci, Francesco
    Lim, Wooi Fang
    Striano, Pasquale
    Zara, Federico
    Helbig, Ingo
    Muona, Mikko
    Courage, Carolina
    Lehesjoki, Anna-Elina
    Berkovic, Samuel F.
    Fischbeck, Kenneth H.
    Brancati, Francesco
    Morimoto, Richard I.
    Wood, Matthew J. A.
    Rinaldi, Carlo
    BRAIN COMMUNICATIONS, 2021, 3 (04)
  • [40] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
    Itai, Toshiyuki
    Hamanaka, Kohei
    Sasaki, Kazunori
    Wagner, Matias
    Kotzaeridou, Urania
    Brosse, Ines
    Ries, Markus
    Kobayashi, Yu
    Tohyama, Jun
    Kato, Mitsuhiro
    Ong, Winnie P.
    Chew, Hui B.
    Rethanavelu, Kavitha
    Ranza, Emmanuelle
    Blanc, Xavier
    Uchiyama, Yuri
    Tsuchida, Naomi
    Fujita, Atsushi
    Azuma, Yoshiteru
    Koshimizu, Eriko
    Mizuguchi, Takeshi
    Takata, Atsushi
    Miyake, Noriko
    Takahashi, Hidehisa
    Miyagi, Etsuko
    Tsurusaki, Yoshinori
    Doi, Hiroshi
    Taguri, Masataka
    Antonarakis, Stylianos E.
    Nakashima, Mitsuko
    Saitsu, Hirotomo
    Miyatake, Satoko
    Matsumoto, Naomichi
    HUMAN MUTATION, 2021, 42 (01) : 66 - 76
12345