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A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.

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Title: A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.
Authors: Fu, Yujiao (AUTHOR), Zhou, Chaojun (AUTHOR), Song, Rui (AUTHOR), Peng, Jinxin (AUTHOR), Yang, Xiaosu (AUTHOR), Xiao, Bo (AUTHOR), Zhou, Jinxia (AUTHOR), Long, Hongyu (AUTHOR)
Source: Neurological Sciences. Aug2020, Vol. 41 Issue 8, p2267-2270. 4p. 2 Graphs.
Subjects: Genetic mutation, Seizures (Medicine), Diseases, Epilepsy, Persistent vegetative state, Chinese people
Abstract: EPM2A has been certified as a causative gene in patients with Lafora disease (LD), which is a rare autosomal recessive and severe form of progressive myoclonus epilepsy. LD classically starts in adolescence, characterized by various types of seizure with myoclonic seizure as the main type. Typically within 10 years, intractable seizure attack, rapidly progressing dementia, and a vegetative state were present. LD is particularly frequently found in Mediterranean countries. Here, we report a Chinese family with a novel compound heterozygous mutation in the EPM2A gene, characterized by recurrent vomiting, intractable epilepsy, and progressive cognitive decline. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.
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  Data: <searchLink fieldCode="AR" term="%22Fu%2C+Yujiao%22">Fu, Yujiao</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhou%2C+Chaojun%22">Zhou, Chaojun</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Song%2C+Rui%22">Song, Rui</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Peng%2C+Jinxin%22">Peng, Jinxin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yang%2C+Xiaosu%22">Yang, Xiaosu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xiao%2C+Bo%22">Xiao, Bo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhou%2C+Jinxia%22">Zhou, Jinxia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Long%2C+Hongyu%22">Long, Hongyu</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Aug2020, Vol. 41 Issue 8, p2267-2270. 4p. 2 Graphs.
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  Data: <searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Seizures+%28Medicine%29%22">Seizures (Medicine)</searchLink><br /><searchLink fieldCode="DE" term="%22Diseases%22">Diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Persistent+vegetative+state%22">Persistent vegetative state</searchLink><br /><searchLink fieldCode="DE" term="%22Chinese+people%22">Chinese people</searchLink>
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  Data: EPM2A has been certified as a causative gene in patients with Lafora disease (LD), which is a rare autosomal recessive and severe form of progressive myoclonus epilepsy. LD classically starts in adolescence, characterized by various types of seizure with myoclonic seizure as the main type. Typically within 10 years, intractable seizure attack, rapidly progressing dementia, and a vegetative state were present. LD is particularly frequently found in Mediterranean countries. Here, we report a Chinese family with a novel compound heterozygous mutation in the EPM2A gene, characterized by recurrent vomiting, intractable epilepsy, and progressive cognitive decline. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Text: English
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