Treatment of drop episodes in Coffin-Lowry syndrome.

ORiordan S; Patton M; Schon F

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Treatment of drop episodes in Coffin-Lowry syndrome.

机译：Coffin-Lowry综合征跌落发作的治疗。

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Sirs: Coffin-Lowry syndrome (CLS) is a rare X-linked disorder in which affected males have learning disability and characteristic dys-morphism . Other neurological manifestations include spasticity and deafness. Causative mutations in the RSK2 gene at Xp22.2 were first described in 1996 [13]. An infrequent association with CLS is recurrent drop episodes. The optimal treatment for these episodes is unclear.

机译：主席先生：棺材低综合征（CLS）是一种罕见的X连锁疾病，其中受影响的男性具有学习障碍和典型的畸形现象。其他神经系统表现包括痉挛和耳聋。 Xp22.2处RSK2基因的致病性突变最早于1996年描述[13]。与CLS的罕见关联是反复发作。对于这些发作的最佳治疗方法尚不清楚。

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《Journal of neurology》 |2006年第1期|共2页
作者
ORiordan S; Patton M; Schon F;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Anticonvulsants; Coffin-Lowry Syndrome; Syncope; 抗惊厥药; 晕厥;

机译：Anticonvulsants;Coffin-Lowry Syndrome;Syncope;抗惊厥药;晕厥;

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1. Treatment of drop episodes in Coffin-Lowry syndrome. [J] . ORiordan S, Patton M, Schon F Journal of neurology . 2006,第1期

机译：Coffin-Lowry综合征跌落发作的治疗。
2. Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome [J] . G. Imataka, I. Nakajima, K. Goto, European review for medical and pharmacological sciences. . 2016,第3期

机译：气管切开术后的跌落发作得到改善：Coffin-Lowry综合征合并阻塞性睡眠呼吸暂停综合征
3. Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain [J] . RojnueangnitK., JonesJ.R., BasehoreM.J., American journal of medical genetics, Part A . 2014,第2期

机译：雌性棺材减低综合征的典型表型，具有刺激引起的跌落发作和具有保留的N-末端激酶结构域的基因型
4. The medial epicondyleplasty proposed by De la Caffiniere for the treatment of cubital tunnel syndrome. Preliminary Result. [C] . Lajara-Marco F, Fuentes-Diaz A, Izquierdo-Plazas L. Federation of European Societies for Surgery of the Hand . 2010

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5. Pre- and post-nicotine circadian activity episodes are differentially affected by pharmacological treatments for drug addiction. [D] . Gillman, Andrea G. 2010

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6. Cataplexy in Coffin-Lowry syndrome. [O] . J P Fryns, E Smeets 1998

机译：棺材-Lowry综合征中的 Cataplexy。
7. Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome [O] . G. B. Nelson, J. S. Hahn 2003

机译：柔软诱导的棺材 - 乳氏综合征中的下降集
8. Treatment Episode Data Set (TEDS): Predictors of Substance Abuse Treatment Completion or Transfer to Further Treatment by Service Type [R] . 2009

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Treatment of drop episodes in Coffin-Lowry syndrome.

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