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Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

✍ Scribed by Vanderver, Adeline; Simons, Cas; Schmidt, Johanna L.; Pearl, Philip L.; Bloom, Miriam; Lavenstein, Bennett; Miller, David; Grimmond, Sean M.; Taft, Ryan J.


Book ID
122297103
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
906 KB
Volume
50
Category
Article
ISSN
0887-8994

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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