Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

(2016) Pedro Rodenas-Cuadrado et al.   BMC Medical Genetics

The role of candidate-geneCNTNAP2in childhood apraxia of speech and specific language impairment

(2015) T. M. Centanni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

(2015) Detelina Grozeva et al.   HUMAN MUTATION

No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins

(2015) John D. Murdoch et al.   PLoS Genetics

Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10

(2015) Lina Jonsson et al.   Molecular Autism

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

(2014) Christopher M. Watson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variants of the CNTNAP2 5′ promoter as risk factors for autism spectrum disorders: a genetic and functional approach

(2014) A G Chiocchetti et al.   MOLECULAR PSYCHIATRY

Shining a light on CNTNAP2: complex functions to complex disorders

(2013) Pedro Rodenas-Cuadrado et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distribution of language-related Cntnap2 protein in neural circuits critical for vocal learning

(2013) Michael C. Condro et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Defining the Contribution of CNTNAP2 to Autism Susceptibility

(2013) Srirangan Sampath et al.   PLoS One

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development

(2012) G. R. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

What does CNTNAP2 reveal about autism spectrum disorder?

(2012) Olga Peñagarikano et al.   TRENDS IN MOLECULAR MEDICINE

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

(2011) Anne Gregor et al.   BMC Medical Genetics

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

(2011) Olga Peñagarikano et al.   CELL

CNTNAP2variants affect early language development in the general population

(2011) A. J. O. Whitehouse et al.   GENES BRAIN AND BEHAVIOR

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

(2010) Aline L. Petrin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects

(2010) D. F. Newbury et al.   BEHAVIOR GENETICS

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample

(2010) Beate Peter et al.   Journal of Neurodevelopmental Disorders

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Recent advances in the genetics of language impairment

(2010) Dianne F Newbury et al.   Genome Medicine

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder

(2009) Martin Poot et al.   NEUROGENETICS

Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl

(2009) Christopher Jackman et al.   PEDIATRIC NEUROLOGY

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Functional Genetic Link between Distinct Developmental Language Disorders

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