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A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-05-13 , DOI: 10.1038/s41439-019-0053-y Yasutsugu Chinen 1 , Sadao Nakamura 1 , Takuya Kaneshi 1 , Mami Nakayashiro 2 , Kumiko Yanagi 3 , Tadashi Kaname 3 , Kenji Naritomi 4 , Koichi Nakanishi 1
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-05-13 , DOI: 10.1038/s41439-019-0053-y Yasutsugu Chinen 1 , Sadao Nakamura 1 , Takuya Kaneshi 1 , Mami Nakayashiro 2 , Kumiko Yanagi 3 , Tadashi Kaname 3 , Kenji Naritomi 4 , Koichi Nakanishi 1
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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.
中文翻译：
顽固性癫痫和心脏畸形患者的新型无意义SMC1A突变。
Cornelia de Lange综合征（CdLS）是由遗传变异引起的粘膜病变。我们介绍了一位女性，患有与SMC1A相关的CdLS，具有新的SMC1A截短突变（p。Arg499Ter），大动脉移位和40个月大以后的周期性难治性癫痫发作。文献回顾显示，这些患者能够行走，而不论其癫痫病程如何，至少在出生后至少有15个月的无癫痫发作期。
更新日期：2019-05-13
中文翻译：
顽固性癫痫和心脏畸形患者的新型无意义SMC1A突变。
Cornelia de Lange综合征（CdLS）是由遗传变异引起的粘膜病变。我们介绍了一位女性，患有与SMC1A相关的CdLS，具有新的SMC1A截短突变（p。Arg499Ter），大动脉移位和40个月大以后的周期性难治性癫痫发作。文献回顾显示，这些患者能够行走，而不论其癫痫病程如何，至少在出生后至少有15个月的无癫痫发作期。
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