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

• Main Authors: Yuxia Tan (Author), Mei Hou (Author), Shaochun Ma (Author), Peipei Liu (Author), Shungang Xia (Author), Yu Wang (Author), Liping Chen (Author), Zongbo Chen (Author)
• Format: Book
• Published: BMC, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or foca...