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

标题
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
作者
关键词
Point mutation, Epilepsy, Deletion mutation, Nonsense mutation, Cognitive impairment, Mutation, Mental retardation, Fibroblasts
出版物
PLoS Genetics
Volume 5, Issue 2, Pages e1000381
出版商
Public Library of Science (PLoS)
发表日期
2009-02-13
DOI
10.1371/journal.pgen.1000381

向作者/读者发起求助以获取更多资源

Reprint

联系作者

Discover Peeref hubs

Discuss science. Find collaborators. Network.

Join a conversation

Ask a Question. Answer a Question.

Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.

Get Started