Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

PCDH19 -related epilepsy is associated with a broad neurodevelopmental spectrum

(2018) Lacey Smith et al.   EPILEPSIA

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy

(2017) Marina Trivisano et al.   EPILEPSIA

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

(2017) Duyen H. Pham et al.   HUMAN MOLECULAR GENETICS

Expression profile of N-cadherin and protocadherin-19 in postnatal mouse limbic structures

(2017) Anne Schaarschuch et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

(2017) Valentina Cetica et al.   NEUROLOGY

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

(2016) Isabelle Thiffault et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PCDH19-related epilepsy in two mosaic male patients

(2016) Alessandra Terracciano et al.   EPILEPSIA

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations

(2016) Delphine Breuillard et al.   EPILEPSY & BEHAVIOR

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

(2016) Jan Lotte et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

(2016) Daniel T. Pederick et al.   Scientific Reports

Cognitive development in females with PCDH19 gene-related epilepsy

(2015) Simona Cappelletti et al.   EPILEPSY & BEHAVIOR

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

(2015) Chuan Tan et al.   HUMAN MOLECULAR GENETICS

Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact

(2014) Emanuela Leonardi et al.   ANNALS OF HUMAN GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Focal seizures with affective symptoms are a major feature ofPCDH19gene-related epilepsy

(2012) Carla Marini et al.   EPILEPSIA

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature

(2012) Ana Camacho et al.   EPILEPSY & BEHAVIOR

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

(2012) Christel Depienne et al.   HUMAN MUTATION

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

(2012) A. Terracciano et al.   NEUROGENETICS

A Novel PCDH19 Mutation Inherited From an Unaffected Mother

(2012) Petia S. Dimova et al.   PEDIATRIC NEUROLOGY

Electroencephalographic characteristics of Dravet syndrome

(2011) Michelle Bureau et al.   EPILEPSIA

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

(2011) Nicola Specchio et al.   EPILEPSIA

PCDH19 mutation in Japanese females with epilepsy

(2011) Norimichi Higurashi et al.   EPILEPSY RESEARCH

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

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

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