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. |
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| 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] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| 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] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-020-04377-7 |
