Encephalopathy

Encephalopathy is a syndrome that involves global brain dysfunction. Encephalopathies have varying aetiologies: causes include for example ischaemic or traumatic brain injury, infectious agents, toxins, autoimmune attack or neurodegeneration.

Latest Research and Reviews

  • Research | | open

    Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.

    • Jennifer Friedman
    • , Desiree E. Smith
    • , Mahmoud Y. Issa
    • , Valentina Stanley
    • , Rengang Wang
    • , Marisa I. Mendes
    • , Meredith S. Wright
    • , Kristen Wigby
    • , Amber Hildreth
    • , John R. Crawford
    • , Alanna E. Koehler
    • , Shimul Chowdhury
    • , Shareef Nahas
    • , Liting Zhai
    • , Zhiwen Xu
    • , Wing-Sze Lo
    • , Kiely N. James
    • , Damir Musaev
    • , Andrea Accogli
    • , Kether Guerrero
    • , Luan T. Tran
    • , Tarek E. I. Omar
    • , Tawfeg Ben-Omran
    • , David Dimmock
    • , Stephen F. Kingsmore
    • , Gajja S. Salomons
    • , Maha S. Zaki
    • , Geneviève Bernard
    •  & Joseph G. Gleeson
  • Research | | open

    tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebrafish model.

    • Aleksandra Siekierska
    • , Hannah Stamberger
    • , Tine Deconinck
    • , Stephanie N. Oprescu
    • , Michèle Partoens
    • , Yifan Zhang
    • , Jo Sourbron
    • , Elias Adriaenssens
    • , Patrick Mullen
    • , Patrick Wiencek
    • , Katia Hardies
    • , Jeong-Soo Lee
    • , Hoi-Khoanh Giong
    • , Felix Distelmaier
    • , Orly Elpeleg
    • , Katherine L. Helbig
    • , Joseph Hersh
    • , Sedat Isikay
    • , Elizabeth Jordan
    • , Ender Karaca
    • , Angela Kecskes
    • , James R. Lupski
    • , Reka Kovacs-Nagy
    • , Patrick May
    • , Vinodh Narayanan
    • , Manuela Pendziwiat
    • , Keri Ramsey
    • , Sampathkumar Rangasamy
    • , Deepali N. Shinde
    • , Ronen Spiegel
    • , Vincent Timmerman
    • , Sarah von Spiczak
    • , Ingo Helbig
    • , Chris Balak
    • , Newell Belnap
    • , Ana Claasen
    • , Amanda Courtright
    • , Matt de Both
    • , Matthew J. Huentelman
    • , Marcus Naymik
    • , Ryan Richholt
    • , Ashley L. Siniard
    • , Szabolcs Szelinger
    • , David W. Craig
    • , Isabelle Schrauwen
    • , Zaid Afawi
    • , Rudi Balling
    • , Stéphanie Baulac
    • , Nina Barišić
    • , Hande S. Caglayan
    • , Dana Craiu
    • , Rosa Guerrero-López
    • , Renzo Guerrini
    • , Helle Hjalgrim
    • , Johanna Jähn
    • , Karl Martin Klein
    • , Eric Leguern
    • , Johannes R. Lemke
    • , Holger Lerche
    • , Carla Marini
    • , Rikke S. Møller
    • , Hiltrud Muhle
    • , Felix Rosenow
    • , Jose Serratosa
    • , Arvid Suls
    • , Ulrich Stephani
    • , Katalin Štěrbová
    • , Pasquale Striano
    • , Federico Zara
    • , Sarah Weckhuysen
    • , Christopher Francklyn
    • , Anthony Antonellis
    • , Peter de Witte
    •  & Peter De Jonghe
  • Research | | open

    • Shoji Yokobori
    • , Kevin K. K. Wang
    • , Zhihui Yang
    • , Tian Zhu
    • , Joseph A. Tyndall
    • , Stefania Mondello
    • , Yasushi Shibata
    • , Naoki Tominaga
    • , Takahiro Kanaya
    • , Toru Takiguchi
    • , Yutaka Igarashi
    • , Jun Hagiwara
    • , Ryuta Nakae
    • , Hidetaka Onda
    • , Tomohiko Masuno
    • , Akira Fuse
    •  & Hiroyuki Yokota
  • Reviews |

    In this Review, the authors consider the evidence for the contribution of various factors to the pathogenesis of cerebral palsy, highlighting the complexities in its aetiology to inform translational research for the prevention of cerebral palsy.

    • Steven J. Korzeniewski
    • , Jaime Slaughter
    • , Madeleine Lenski
    • , Peterson Haak
    •  & Nigel Paneth

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