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EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome

โœ Scribed by Sabrina Buoni; Raffaella Zannolli; Claudio De Felice; Anna De Nicola; Vanessa Guerri; Beatrice Guerra; Stefania Casali; Barbara Pucci; Letizia Corbini; Francesca Mari; Alessandra Renieri; Michele Zappella; Joseph Hayek

Book ID
116370499
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
350 KB
Volume
121
Category
Article
ISSN
1388-2457

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Novel de novo nonsense mutation of MECP2
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
โœ Soo-Jeong Kim; Edwin H. Cook Jr. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 35 KB ๐Ÿ‘ 3 views

Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le