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

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

If not Angelman, what is it? a review of Angelman-like syndromes

(2014) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic and phenotypic diversity ofNHE6mutations in Christianson syndrome

(2014) Matthew F. Pescosolido et al.   ANNALS OF NEUROLOGY

Next-generation sequencing applied to rare diseases genomics

(2014) Krissi Danielsson et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

Epilepsy Genetics Revolutionizes Clinical Practice

(2014) Ingrid Scheffer   NEUROPEDIATRICS

Next-generation sequencing in childhood disorders

(2013) Ricardo Parolin Schnekenberg et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits

(2013) Francesco Miceli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A population-based study of newly diagnosed epilepsy in infants

(2012) Christin M. Eltze et al.   EPILEPSIA

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

(2012) Y. Jane Tavyev Asher et al.   European Journal of Medical Genetics

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

(2012) Cathryn Poulton et al.   NEUROGENETICS

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS