Paternal mosaicism of an STXBP1 mutation in OS

Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N. Paternal mosaicism of an STXBP1 mutation in OS. Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. We have recently identified that the de novo...

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Veröffentlicht in:	Clinical genetics 2011-11, Vol.80 (5), p.484-488
Hauptverfasser:	Saitsu, H, Hoshino, H, Kato, M, Nishiyama, K, Okada, I, Yoneda, Y, Tsurusaki, Y, Doi, H, Miyake, N, Kubota, M, Hayasaka, K, Matsumoto, N
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Biological and medical sciences Blood EEG Epilepsy Epilepsy - genetics Exons Fathers Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution HRM analysis Humans Infant Infant, Newborn Insertion Introns Male Medical genetics Medical sciences Melting Molecular and cellular biology Mosaicism Mosaics Munc18 Proteins - genetics Mutation Nails Nonsense mutation nonsense-mediated mRNA decay Polymerase chain reaction Saliva somatic mosaicism Spasms, Infantile - genetics Splicing STXBP1 Transcription
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