Article
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
BMC medical genetics - 4 Jun 2018
Tan Yuxia, Hou Mei, Ma Shaochun, Liu Peipei, Xia Shungang, Wang Yu, Chen Liping, Chen Zongbo
Abstract excerpt
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 focal seizures with or without fever sensitivity. The clinical manifestation of the condition ranges from mild to severe,...
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