De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

[1]  François Dubeau,et al.  High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. , 2017, American journal of human genetics.

[2]  G. Vriend,et al.  Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. , 2017, American journal of human genetics.

[3]  H. Lerche,et al.  The role of genetic testing in epilepsy diagnosis and management , 2017, Expert review of molecular diagnostics.

[4]  Edouard Hirsch,et al.  ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology , 2017, Epilepsia.

[5]  T. Akiyama,et al.  Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency , 2017, Brain and Development.

[6]  Joan,et al.  Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.

[7]  Deciphering Developmental Disorders Study,et al.  Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.

[8]  Huaxi Xu,et al.  Dysregulation of Ubiquitin-Proteasome System in Neurodegenerative Diseases , 2016, Front. Aging Neurosci..

[9]  R. Frye,et al.  Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment , 2016, Molecular Syndromology.

[10]  J. Hurst,et al.  Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis , 2016, Journal of Medical Genetics.

[11]  I. Scheffer,et al.  The genetic landscape of the epileptic encephalopathies of infancy and childhood , 2016, The Lancet Neurology.

[12]  A. Suls,et al.  Lessons learned from gene identification studies in Mendelian epilepsy disorders , 2015, European Journal of Human Genetics.

[13]  W. V. van IJcken,et al.  Control of developmentally primed erythroid genes by combinatorial co-repressor actions , 2015, Nature Communications.

[14]  I. Ferrer,et al.  Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. , 2015, Free radical biology & medicine.

[15]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[16]  S. Ojeda,et al.  Transcription of the human EAP1 gene is regulated by upstream components of a puberty-controlling Tumor Suppressor Gene network , 2012, Molecular and Cellular Endocrinology.

[17]  C. Day,et al.  RINGs hold the key to ubiquitin transfer. , 2012, Trends in biochemical sciences.

[18]  S. Ojeda,et al.  Hypothalamic EAP1 (enhanced at puberty 1) is required for menstrual cyclicity in nonhuman primates. , 2012, Endocrinology.

[19]  S. Ojeda,et al.  A Novel Transcription Complex That Selectively Modulates Apoptosis of Breast Cancer Cells through Regulation of FASTKD2 , 2011, Molecular and Cellular Biology.

[20]  A. von Mikecz,et al.  The nuclear ubiquitin-proteasome system: visualization of proteasomes, protein aggregates, and proteolysis in the cell nucleus. , 2008, Methods in molecular biology.

[21]  M. Hentze,et al.  The human intronless melanocortin 4-receptor gene is NMD insensitive. , 2002, Human Molecular Genetics.