Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

The role of genetic testing in epilepsy diagnosis and management

(2017) Yvonne G. Weber et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Epilepsy-associated genes

(2017) Jie Wang et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

(2016) Yu Kobayashi et al.   BRAIN & DEVELOPMENT

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

(2016) Wei Wang et al.   NEUROLOGY

A targeted resequencing gene panel for focal epilepsy

(2016) Michael S. Hildebrand et al.   NEUROLOGY

Management of genetic epilepsies: From empirical treatment to precision medicine

(2016) Pasquale Striano et al.   PHARMACOLOGICAL RESEARCH

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

(2015) S. Dimassi et al.   CLINICAL GENETICS

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

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

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

(2015) Monica Coll et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

(2015) Semra Gürsoy et al.   JOURNAL OF CHILD NEUROLOGY

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype

(2015) Romina Romaniello et al.   NEUROREPORT

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

(2015) Anna Ka-Yee Kwong et al.   PLoS One

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

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

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

(2014) Erika Della Mina et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

The genetic landscape of infantile spasms

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

The hidden genetics of epilepsy—a clinically important new paradigm

(2014) Rhys H. Thomas et al.   Nature Reviews Neurology

Genetic testing in the epilepsies—developments and dilemmas

(2014) Annapurna Poduri et al.   Nature Reviews Neurology

Epilepsy Genetics Revolutionizes Clinical Practice

(2014) Ingrid Scheffer   NEUROPEDIATRICS

SCN1Atesting for epilepsy: Application in clinical practice

(2013) Shinichi Hirose et al.   EPILEPSIA

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

(2013) Hirofumi Kodera et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

Recent advances in the molecular genetics of epilepsy

(2013) Michael S Hildebrand et al.   JOURNAL OF MEDICAL GENETICS

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

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

(2013) J. J. T. van Harssel et al.   NEUROGENETICS

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

Recurrent mutations in theCDKL5gene: Genotype-phenotype relationships

(2012) Nadia Bahi-Buisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epi4K: Gene discovery in 4,000 genomes

(2012)   EPILEPSIA

Focal seizures with affective symptoms are a major feature ofPCDH19gene-related epilepsy

(2012) Carla Marini et al.   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

(2011) Leonardo P. Capelli et al.   European Journal of Medical Genetics

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Developments in Molecular Genetic Diagnostics: An Update for the Pediatric Epilepsy Specialist

(2011) Amanda W. Pong et al.   PEDIATRIC NEUROLOGY

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

Genetic Testing in Epilepsy: What Should You Be Doing?

(2011) Ingrid E. Scheffer   Epilepsy Currents

A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms

(2010) YING-XUE DING et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genetic testing in the epilepsies-Report of the ILAE Genetics Commission

(2010) Ruth Ottman et al.   EPILEPSIA

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

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

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

(2010) Marcella Zollino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

What causes epileptic encephalopathy in infancy?: The answer may lie in our genes

(2010) K. D. Holland et al.   NEUROLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Convulsing toward the pathophysiology of autism

(2008) Roberto Tuchman et al.   BRAIN & DEVELOPMENT

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS