A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

Yasutsugu Chinen; Sadao Nakamura; Takuya Kaneshi; Mami Nakayashiro; Kumiko Yanagi; Tadashi Kaname; Kenji Naritomi; Koichi Nakanishi

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A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

机译：顽固性癫痫和心脏畸形患者的新型无意义SMC1A突变

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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.

机译：Cornelia de Lange综合征（CdLS）是由遗传变异引起的粘膜病变。我们介绍了一名女性，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。文献回顾表明，这些患者能够行走，无论其癫痫病程如何，至少要在其出生后至少15个月内没有癫痫发作期。

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《Human genome variation.》 |2019年第1期|共5页
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Yasutsugu Chinen; Sadao Nakamura; Takuya Kaneshi; Mami Nakayashiro; Kumiko Yanagi; Tadashi Kaname; Kenji Naritomi; Koichi Nakanishi;
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中图分类医学遗传学;
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1. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. [J] . Kamiya K, Kaneda M, Sugawara T, The Journal of Neuroscience: The Official Journal of the Society for Neuroscience . 2004,第11期

机译：顽固性癫痫和智力低下患者钠通道基因SCN2A的无意义突变。
2. De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy [J] . S Franciosi Clinical Genetics . 2010,第6期

机译：散发性顽固性癫痫中钠通道基因SCN2A的从头无意义突变
3. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology [J] . Dyment David A., Smith Amanda C., Humphreys Peter, Neurobiology of Aging: Experimental and Clinical Research . 2015,第2期

机译：SYNJ1的纯合性无意义突变与顽固性癫痫和tau病理学相关
4. Low computational complexity EEG epilepsy data classification algorithm for patients with intractable seizures [C] . Aldabbagh Ahmad M., Alshebeili Saleh A., Alotaiby Turky N., International Conference on Biomedical Engineering . 2015

机译：难治性癫痫患者的低计算复杂度EEG癫痫数据分类算法
5. Intractable Epilepsy: Does Perception of Epilepsy Stigma Affect Levels of Caregiver Burden? [D] . Hansen, Barbara. 2017

机译：顽固性癫痫：癫痫柱头的知觉会影响护理人员的负担水平吗？
6. A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation [O] . Yasutsugu Chinen, Sadao Nakamura, Takuya Kaneshi, 2019

机译：顽固性癫痫和心脏畸形患者的新型无意义SMC1A突变
7. A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation [O] . Yasutsugu Chinen, Sadao Nakamura, Takuya Kaneshi, 2019

机译：一种具有顽固性癫痫和心脏畸形的患者中的一种新型非阵亡SMC1A突变

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

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