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

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

Shining a light on CNTNAP2: complex functions to complex disorders

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

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

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

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

Clinical Significance of Rare Copy Number Variations in Epilepsy

(2011) Pasquale Striano   ARCHIVES OF NEUROLOGY

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

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

(2010) Eric Lancaster et al.   ANNALS OF NEUROLOGY

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

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

(2008) Maricela Alarcón 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