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Title | : | A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation |
Authors | : | Chinen, Yasutsugu Nakamura, Sadao Kaneshi, Takuya Nakayashiro, Mami Yanagi, Kumiko Kaname, Tadashi Naritomi, Kenji Nakanishi, Koichi |
Issue Date | : | 13-May-2019 |
Abstract | : | Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course. |
URL | : | https://doi.org/10.1038/s41439-019-0053-y |
Type Local | : | 雑誌掲載論文 |
ISSN | : | 2054-345X |
Publisher | : | Springer Nature |
URI | : | http://hdl.handle.net/20.500.12000/45906 |
Citation | : | Human Genome Variation Vol.6 |
Appears in Collections | : | Peer-reviewed Journal Articles (Faculty of Medicine)
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s41439-019-0053-y.pdf | | 541Kb | Adobe PDF | View/Open |
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