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Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

✍ Scribed by Sofia Duarte; Francesc Sanmarti; Veronica Gonzalez; Belen Perez Duenas; Aida Ormazabal; Rafael Artuch; Jaime Campistol; Angels Garcia-Cazorla

Book ID: 113498526
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 109 KB
Volume: 30
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2007.06.009

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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