West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

Retractions

(2015) Yong-Rui Piao et al.   BIOLOGY OF REPRODUCTION

Complex mosaicCDKL5deletion with two distinct mutant alleles in a 4-year-old girl

(2014) Nadia Boutry-Kryza et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial EF4 links respiratory dysfunction and cytoplasmic translation in Caenorhabditis elegans

(2014) Fang Yang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

Mitochondrial disorders and epilepsy

(2014) I. Desguerre et al.   REVUE NEUROLOGIQUE

The paradox of elongation factor 4: highly conserved, yet of no physiological significance?

(2013) Dejiu Zhang et al.   BIOCHEMICAL JOURNAL

Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013

(2013) Piero Pavone et al.   BRAIN & DEVELOPMENT

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome

(2013) D. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

(2011) Cyril Mignot et al.   EPILEPSIA

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Genetic and Biologic Classification of Infantile Spasms

(2011) Alex R. Paciorkowski et al.   PEDIATRIC NEUROLOGY

The conserved protein EF4 (LepA) modulates the elongation cycle of protein synthesis

(2011) H. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elongation factor 4 (EF4/LepA) accelerates protein synthesis at increased Mg2+ concentrations

(2011) M. Pech et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

(2010) John P. Kemp et al.   BRAIN

The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification2

(2010) John P. Osborne et al.   EPILEPSIA

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study

(2010) Motoko Otsuka et al.   EPILEPSIA

Infantile spasms: A U.S. consensus report

(2010) John M. Pellock et al.   EPILEPSIA

Epileptic phenotypes in children with respiratory chain disorders

(2010) Sandra El Sabbagh et al.   EPILEPSIA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study

(2010) Lieven Lagae et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Translation factor LepA contributes to tellurite resistance in Escherichia coli but plays no apparent role in the fidelity of protein synthesis

(2009) Shinichiro Shoji et al.   BIOCHIMIE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The natural history of epilepsy in tuberous sclerosis complex

(2009) Catherine J. Chu-Shore et al.   EPILEPSIA

Neurodevelopmental and Epilepsy Outcomes in a North American Cohort of Patients With Infantile Spasms

(2009) Arthur Partikian et al.   JOURNAL OF CHILD NEUROLOGY

Mrpl36 Is Important for Generation of Assembly Competent Proteins during Mitochondrial Translation

(2009) Martin Prestele et al.   MOLECULAR BIOLOGY OF THE CELL

Genetics of epilepsy syndromes starting in the first year of life

(2009) L. Deprez et al.   NEUROLOGY

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

(2009) Hsiu-Fen Lee et al.   PEDIATRIC NEUROLOGY

The management of infantile spasms

(2008) I. Desguerre et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies

(2008) Divya Khurana et al.   EPILEPSIA

Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions

(2008) Young Mock Lee et al.   EPILEPSIA

The Membrane-bound GTPase Guf1 Promotes Mitochondrial Protein Synthesis under Suboptimal Conditions

(2008) Heike Bauerschmitt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A new tRNA intermediate revealed on the ribosome during EF4-mediated back-translocation

(2008) Sean R Connell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

tRNAdb 2009: compilation of tRNA sequences and tRNA genes

(2008) F. Juhling et al.   NUCLEIC ACIDS RESEARCH

The structure of LepA, the ribosomal back translocase

(2008) R. N. Evans et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA