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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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