Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR

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

(2011) Nicola Specchio et al.   EPILEPSIA

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

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

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 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

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

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

(2008) Leanne M Dibbens et al.   NATURE GENETICS