Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Epilepsy and outcome inFOXG1-related disorders

(2014) Laurie E. Seltzer et al.   EPILEPSIA

Genetic testing in the epilepsies—developments and dilemmas

(2014) Annapurna Poduri et al.   Nature Reviews Neurology

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

(2013) Frederic Tran Mau-Them et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

(2013) Ulvi Vaher et al.   JOURNAL OF CHILD NEUROLOGY

Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

(2013) Stephanie K. Gandomi et al.   Journal of Genetic Counseling

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

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

Sodium channels and the neurobiology of epilepsy

(2012) Megan Oliva 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

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

(2011) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

(2011) Yu Kobayashi et al.   BRAIN & DEVELOPMENT

Early Infantile Onset ‘‘Congenital’’ Rett Syndrome Variants: Swedish Experience Through Four Decades and Mutation Analysis

(2011) Saideh Rajaei et al.   JOURNAL OF CHILD NEUROLOGY

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

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

(2010) Hirotomo Saitsu et al.   EPILEPSIA

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

(2008) A. Renieri 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