Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Epileptic encephalopathies are a devastating group of epilepsies with a poor prognosis, for which the majority have unknown etiology.

Contribution: performed mutation segregation analysis

Read the rest of this article in Nature Genetics

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

Create a website or blog at WordPress.com

Up ↑

%d bloggers like this: