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EEG abnormalities aid diagnosis of Rett syndrome

✍ Scribed by Garofalo, Elizabeth A.; Drury, Ivo; Goldstein, Gary W.

Book ID
123077686
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
377 KB
Volume
4
Category
Article
ISSN
0887-8994

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Since 1999, many laboratories have confirmed that mutations in the MECP2 gene are the primary cause of Rett syndrome (RTT or RS) and identified mutations in 70 to 90% of the sporadically affected girls. Most of the screenings are PCR-based and restricted to the coding part of the gene and therefore