Shining a light on CNTNAP2: complex functions to complex disorders

Pathogen Free Conditions Slow the Onset of Neurodegeneration in a Mouse Model of Nerve Growth Factor Deprivation

(2018) Simona Capsoni et al.   JOURNAL OF ALZHEIMERS DISEASE

CNTNAP2variants affect early language development in the general population

(2012) A. J. O. Whitehouse et al.   GENES BRAIN AND BEHAVIOR

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

(2012) G. Falivelli et al.   HUMAN MOLECULAR GENETICS

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Functional analysis ofTCF4missense mutations that cause Pitt-Hopkins syndrome

(2012) Marc Forrest et al.   HUMAN MUTATION

CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs

(2012) Miriam Kos et al.   PLoS One

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

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

(2011) Fady M. Mikhail et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of the axon initial segment (AIS) of motor neurons and identification of a para-AIS and a juxtapara-AIS, organized by protein 4.1B

(2011) Amandine Duflocq et al.   BMC BIOLOGY

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

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

(2011) Alex S Nord et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

(2011) Sandra Whalen et al.   HUMAN MUTATION

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

(2010) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

(2010) Line T. Sehested 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

Common Variants in Major Histocompatibility Complex Region and TCF4 Gene Are Significantly Associated with Schizophrenia in Han Chinese

(2010) Tao Li et al.   BIOLOGICAL PSYCHIATRY

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

(2010) Denise Horn et al.   HUMAN MUTATION

Language-relatedCntnap2gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds

(2010) S. Carmen Panaitof et al.   JOURNAL OF COMPARATIVE NEUROLOGY

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

Drosophila Neurexin IV Interacts with Roundabout and Is Required for Repulsive Midline Axon Guidance

(2010) S. Banerjee et al.   JOURNAL OF NEUROSCIENCE

Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2

(2010) Geoffrey C.Y. Tan et al.   NEUROIMAGE

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

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

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

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 12Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

(2008) Elena Rossi et al.   European Journal of Medical Genetics

A Functional Genetic Link between Distinct Developmental Language Disorders

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