Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

Rare copy number variants are an important cause of epileptic encephalopathies

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

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Epilepsy and the new cytogenetics

(2011) John C. Mulley et al.   EPILEPSIA

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

(2011) Roxana Kariminejad et al.   HUMAN MUTATION

Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep

(2011) Sietske H.G. Kevelam et al.   JOURNAL OF CHILD NEUROLOGY

MicroRNA-mediated conversion of human fibroblasts to neurons

(2011) Andrew S. Yoo et al.   NATURE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

(2010) Eric Lancaster et al.   ANNALS OF NEUROLOGY

Early-onset acquired epileptic aphasia (Landau–Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: The continuing debate

(2010) Thierry Deonna et al.   BRAIN & DEVELOPMENT

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders

(2010) Antonia Parmeggiani et al.   BRAIN & DEVELOPMENT

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

(2010) Constanze Reutlinger et al.   EPILEPSIA

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

(2010) Almuth Caliebe et al.   European Journal of Medical Genetics

Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16

(2010) Nicola H. Chapman et al.   HUMAN GENETICS

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

(2010) Patrice Roll et al.   HUMAN MOLECULAR GENETICS

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa

(2010) K Wang et al.   MOLECULAR PSYCHIATRY

A double hit implicates DIAPH3 as an autism risk gene

(2010) J A S Vorstman et al.   MOLECULAR PSYCHIATRY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

(2010) Patrice Roll et al.   PLoS One

Association between FOXP2 gene and speech sound disorder in Chinese population

(2010) Yunjing Zhao et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2

(2010) A. A. Scott-Van Zeeland et al.   Science Translational Medicine

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

(2009) Roberto Giorda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: Insights into possible genetic factors

(2009) Gabrielle Rudolf et al.   EPILEPSIA

Specific language impairment versus Landau-Kleffner syndrome

(2009) Catherine Billard et al.   EPILEPSIA

CSWS-related autistic regression versus autistic regression without CSWS

(2009) Roberto Tuchman   EPILEPSIA

Guidelines for EEG in encephalopathy related to ESES/CSWS in children

(2009) Marjan Scheltens-de Boer   EPILEPSIA

Atypical rolandic epilepsy

(2009) Natalio Fejerman   EPILEPSIA

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

(2009) Lisa J Strug et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

(2009) Marco Henneke et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

A Functional Genetic Link between Distinct Developmental Language Disorders

(2008) Sonja C. Vernes et al.   NEW ENGLAND JOURNAL OF MEDICINE