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

Identification of genomic deletions spanning thePCDH19gene in two unrelated girls with intellectual disability and seizures

(2011) AK Vincent et al.   CLINICAL GENETICS

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

(2011) Nicola Specchio et al.   EPILEPSIA

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2011) R. Nabbout et al.   NEUROLOGY

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

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

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

Absence of Layer-Specific Cadherin Expression Profiles in the Neocortex of the Reeler Mutant Mouse

(2010) Nicole Hertel et al.   CEREBRAL CORTEX

A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms

(2010) Keith Fabisiak et al.   CLINICAL GENETICS

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

(2010) Christel Depienne et al.   HUMAN MUTATION

Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation

(2010) Sayantanee Biswas et al.   JOURNAL OF CELL BIOLOGY

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

The expression of non-clustered protocadherins in adult rat hippocampal formation and the connecting brain regions

(2010) S.Y. Kim et al.   NEUROSCIENCE

Cadherin expression in the somatosensory cortex: evidence for a combinatorial molecular code at the single-cell level

(2010) K. Krishna-K et al.   NEUROSCIENCE

Protocadherin-19 is essential for early steps in brain morphogenesis

(2009) Michelle R. Emond et al.   DEVELOPMENTAL BIOLOGY

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

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

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

(2009) Christel Depienne et al.   PLoS Genetics

Epilepsy and mental retardation limited to females: an under-recognized disorder

(2008) Ingrid E. Scheffer et al.   BRAIN

Layer-Specific Expression of Multiple Cadherins in the Developing Visual Cortex (V1) of the Ferret

(2008) Krishna-K et al.   CEREBRAL CORTEX

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

(2008) C. F. Wright et al.   HUMAN REPRODUCTION UPDATE

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

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

(2007) Véronique Bolduc et al.   JOURNAL OF CLINICAL INVESTIGATION