The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

(2018) Michael S Nahorski et al.   BRAIN

Detection of copy number variations in epilepsy using exome data

(2018) N. Tsuchida et al.   CLINICAL GENETICS

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy

(2018) Ara Ko et al.   EPILEPSY RESEARCH

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

(2018) Sanna Puusepp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

(2017) Andrew S Allen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the genetic heterogeneity of intellectual disability

(2017) Shams Anazi et al.   HUMAN GENETICS

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

(2017) Lucia Abela et al.   PLoS One

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

(2017) Ahmed Arafat et al.   Scientific Reports

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

(2016) Mikko Muona et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

(2016) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause

(2016) Y. Ma et al.   CLINICAL GENETICS

Characterization of SPATA5 -related encephalopathy in early childhood

(2016) H. Kurata et al.   CLINICAL GENETICS

BRF1mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

(2016) Y.H. Jee et al.   CLINICAL GENETICS

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

(2016) S Anazi et al.   MOLECULAR PSYCHIATRY

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

(2016) Rebecca Buchert et al.   Orphanet Journal of Rare Diseases

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy

(2016) Eric Segal et al.   PEDIATRIC NEUROLOGY

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

(2016) Carolien G.F. de Kovel et al.   Molecular Genetics & Genomic Medicine

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

(2015) Akemi J. Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

(2015)   ANNALS OF NEUROLOGY

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

BRF1mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

(2015) Guntram Borck et al.   GENOME RESEARCH

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

(2015) Lucia Abela et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Architecture of TFIIIC and its role in RNA polymerase III pre-initiation complex assembly

(2015) Gary Male et al.   Nature Communications

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

(2014) Edward D. Esplin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice

(2014) D. Frescas et al.   GENES & DEVELOPMENT

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The clinical significance of small copy number variants in neurodevelopmental disorders

(2014) Reza Asadollahi et al.   JOURNAL OF MEDICAL GENETICS

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

(2013) Amanda J. Walne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

(2011) F. Zhong et al.   GENES & DEVELOPMENT

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

(2011) Pengfei Liu et al.   HUMAN MOLECULAR GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS