Literature DB >> 27239025

Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.

R Shaheen1, S Al Tala2, N Ewida1, M Abouelhoda3, F S Alkuraya1,4.   

Abstract

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Year:  2016        PMID： 27239025     DOI： 10.1111/cge.12796

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Ferric Chelate Reductase 1 Like Protein (FRRS1L) Associates with Dynein Vesicles and Regulates Glutamatergic Synaptic Transmission.

Authors:  Wenyan Han; Huiqing Wang; Jun Li; Shizhong Zhang; Wei Lu
Journal:  Front Mol Neurosci       Date:  2017-12-08       Impact factor: 5.639

Review 2.  Emerging Monogenic Complex Hyperkinetic Disorders.

Authors:  Miryam Carecchio; Niccolò E Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2017-10-30       Impact factor: 5.081

3.  Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.

Authors:  Michelle Stewart; Petrina Lau; Gareth Banks; Rasneer Sonia Bains; Enrico Castroflorio; Peter L Oliver; Christine L Dixon; Michael C Kruer; Dimitri M Kullmann; Abraham Acevedo-Arozena; Sara E Wells; Silvia Corrochano; Patrick M Nolan
Journal:  Dis Model Mech       Date:  2019-02-22       Impact factor: 5.758

4.  Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

Authors:  Imane Abdelmoumen; Sandra Jimenez; Ignacio Valencia; Joseph Melvin; Agustin Legido; Mayela M Diaz-Diaz; Christopher Griffith; Lauren J Massingham; Melissa Yelton; Janice Rodríguez-Hernández; Rhonda E Schnur; Laurence E Walsh; Ana G Cristancho; Christina A Bergqvist; Kirsty McWalter; Iain Mathieson; Gillian M Belbin; Eimear E Kenny; Xilma R Ortiz-Gonzalez; Michael C Schneider
Journal:  J Child Neurol       Date:  2020-09-15       Impact factor: 1.987

5.  AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Authors:  Aline Brechet; Rebecca Buchert; Jochen Schwenk; Sami Boudkkazi; Gerd Zolles; Karine Siquier-Pernet; Irene Schaber; Wolfgang Bildl; Abdelkrim Saadi; Christine Bole-Feysot; Patrick Nitschke; Andre Reis; Heinrich Sticht; Nouriya Al-Sanna'a; Arndt Rolfs; Akos Kulik; Uwe Schulte; Laurence Colleaux; Rami Abou Jamra; Bernd Fakler
Journal:  Nat Commun       Date:  2017-07-04       Impact factor: 14.919
  5 in total

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