以肌阵挛为表现的癫痫综合征，为成人型CblC缺陷症。 - Suppr

Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency.

作者信息

Di Giacomo Roberta, Salsano Ettore, Deleo Francesco, Pastori Chiara, Didato Giuseppe, Stabile Andrea, Ferrario Rosalba, Giovagnoli Anna Rita, Benzoni Chiara, Sarro Lidia, Visani Elisa, Canafoglia Laura

机构信息

Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

出版信息

J Neurol. 2022 Sep;269(9):5173-5178. doi: 10.1007/s00415-022-11129-4. Epub 2022 Apr 11.

DOI:10.1007/s00415-022-11129-4

PMID:35403876

Abstract

摘要

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Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency.以肌阵挛为表现的癫痫综合征，为成人型CblC缺陷症。

J Neurol. 2022 Sep;269(9):5173-5178. doi: 10.1007/s00415-022-11129-4. Epub 2022 Apr 11.

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[Myoclonus and epilepsy: diagnosis and pathophysiology].[肌阵挛与癫痫：诊断与病理生理学]

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Ethosuximide is effective in the treatment of epileptic negative myoclonus in childhood partial epilepsy.乙琥胺对治疗儿童部分性癫痫中的癫痫性负性肌阵挛有效。

J Child Neurol. 1999 Jun;14(6):395-400. doi: 10.1177/088307389901400609.

Non-epileptic myoclonus and mitochondrial encephalomyopathy.非癫痫性肌阵挛与线粒体脑肌病

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Chronic negative myoclonus with hypercapnic encephalopathy.伴有高碳酸血症性脑病的慢性负性肌阵挛

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Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus.癫痫性肌阵挛及与肌阵挛相关的癫痫综合征的治疗选择。

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Opsoclonus-myoclonus syndrome in acute cerebellar ataxia--clinical and electrophysiological observations of an adult case--.急性小脑性共济失调中的眼阵挛-肌阵挛综合征——1例成人病例的临床及电生理观察——

Folia Psychiatr Neurol Jpn. 1971;25(2):129-35. doi: 10.1111/j.1440-1819.1971.tb01495.x.

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Kidney Int Rep. 2018 Jun 8;3(5):1153-1162. doi: 10.1016/j.ekir.2018.05.015. eCollection 2018 Sep.

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Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.甲基丙二酸血症患儿的癫痫：电临床特征与预后

Brain Dev. 2011 Oct;33(9):790-5. doi: 10.1016/j.braindev.2011.06.001. Epub 2011 Jul 20.

Cerebral hypermetabolism demonstrated by FDG PET in familial Creutzfeldt-Jakob disease.家族性克雅氏病患者的 FDG PET 显示脑部代谢亢进。

Clin Nucl Med. 2011 Aug;36(8):725-7. doi: 10.1097/RLU.0b013e31821a2604.

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.早发性甲基丙二酸尿症合并同型胱氨酸尿症 cblC 型伴脱髓鞘神经病。

Pediatr Neurol. 2010 Aug;43(2):135-8. doi: 10.1016/j.pediatrneurol.2010.04.007.

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.青少年及成人型钴胺素C病：临床与分子谱

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Am J Med Genet A. 2007 Oct 15;143A(20):2430-4. doi: 10.1002/ajmg.a.31932.

Glucose utilization in the inferior cerebellar vermis and ocular myoclonus.小脑蚓部葡萄糖利用与眼肌阵挛

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Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency.

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