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Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.

Abstract:

BACKGROUND: Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system; the neurological damage is mainly attributed to overstimulation of the N-methyl-D-aspartate receptor. CASE: The patient presented with a severe form of nonketotic hyperglycinemia and experienced frequent epileptic spasms and focal seizures, which were resistant to vigabatrin, adrenocorticotropic hormone therapy, and combined dextromethorphan and sodium benzoate treatments. By 9 months of age, perampanel reduced epileptic spasms by >50%. At 14 months of age, the ketogenic diet markedly reduced focal seizures and glycine levels in the cerebrospinal fluid. CONCLUSION: Perampanel reduced fast excitatory neuronal activity, which was induced by an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor, followed by prolonged electrical depolarizations due to an N-methyl-D-aspartate receptor. Furthermore, the ketogenic diet may have modulated the excessive neurotoxic cascade through the N-methyl-D-aspartate receptor. Perampanel and ketogenic diet were effective for seizure control in our patient.

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NEUROPEDIATRICS

最新影响因子：1.696	期刊ISSN：0174-304X	CiteScore：1.3
出版周期：Bimonthly	是否OA：YES	出版年份：1980

期刊官方网址：http://www.thieme.com/index.php?page=shop.product_details&flypage=flypage.tpl&product_id=967&categor

期刊投稿地址：http://mc.manuscriptcentral.com/neuped

自引率：5.20%	研究方向：医学-临床神经学
出版地区：GERMANY

SCI期刊coverage：Science Citation Index Expanded（科学引文索引扩展）

NCBI查询：PubMed Central (PMC)链接全文检索(pubmed central)

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小儿胃肠病学和营养

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序号	类别	排名	百分位
1	大类(学科)：Medicine 小类(学科)：Pediatrics, Perinatology and Child Health	#108/271 点击查看排名表	60th
2	大类(学科)：Medicine 小类(学科)：Neurology (clinical)	#201/336 点击查看排名表	40th

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Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.