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De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

✍ Scribed by Keiko Shimojima; Akihisa Okumura; Harushi Mori; Shinpei Abe; Mitsuru Ikeno; Toshiaki Shimizu; Toshiyuki Yamamoto


Book ID
115549349
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
314 KB
Volume
158A
Category
Article
ISSN
1552-4825

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## Abstract Recent studies have shown that haploinsufficiency of __MEF2C__ causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early‐onset epileptic encephalopathy, and hypoplastic corpus callosum