Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

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

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 683 citations · Full text

Genetics, Novo Mutations, Neurotransmission +5

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

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 441 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

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

Christel Depienne, Delphine Bouteiller, Boris Keren et al. · PLoS Genetics · 2009 · 368 citations · Full text

Mainly Affects Females, Dravet Syndrome, Mendelian Disorder +15

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

Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens et al. · Brain · 2008 · 193 citations · Full text

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser, Amanda Lindy, Elizabeth Butler et al. · Genetics in Medicine · 2017 · 165 citations · Full text