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

Title
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Authors
Keywords
Point mutation, Epilepsy, Deletion mutation, Nonsense mutation, Cognitive impairment, Mutation, Mental retardation, Fibroblasts
Journal
PLoS Genetics
Volume 5, Issue 2, Pages e1000381
Publisher
Public Library of Science (PLoS)
Online
2009-02-13
DOI
10.1371/journal.pgen.1000381

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