Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

(2013) J. J. T. van Harssel et al.   NEUROGENETICS

Bluues server: electrostatic properties of wild-type and mutated protein structures

(2012) I. Walsh et al.   BIOINFORMATICS

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of theARXgene: rethinking theARXphenotype in females

(2012) E Bettella et al.   CLINICAL GENETICS

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

(2012) Christel Depienne et al.   HUMAN MUTATION

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

(2011) Nicola Specchio et al.   EPILEPSIA

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion

(2011) Michelle R. Emond et al.   JOURNAL OF CELL BIOLOGY

Molecular design principles underlying β-strand swapping in the adhesive dimerization of cadherins

(2011) Jeremie Vendome et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

(2011) L. M. Dibbens et al.   NEUROLOGY

A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins

(2011) Emanuela Leonardi et al.   PLoS One

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

(2010) Seema M. Jamal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adhesion properties and retinofugal expression of chicken protocadherin-19

(2010) Kiyoto Tai et al.   BRAIN RESEARCH

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

(2010) Christel Depienne et al.   HUMAN MUTATION

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

(2010) H. Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

(2009) K. Hynes et al.   JOURNAL OF MEDICAL GENETICS

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

SNAP predicts effect of mutations on protein function

(2008) Yana Bromberg et al.   BIOINFORMATICS

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS