Article
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
Clinical genetics - 1 Jan 2017
Liu A, Xu X, Yang X, Jiang Y, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y
Abstract excerpt
Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures. We identified 11 novel and 7...
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