Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
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DOI: 10.1186/s12881-018-0621-x
Abstract: BackgroundThe 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… read more here.
Keywords: infantile epileptic; pcdh19 gene; early infantile; gene ... See more keywords