Two Case of Lafora Disease Diagnosed by Genetical Tests
نویسندگان
چکیده
منابع مشابه
Lafora disease diagnosed by liver biopsy.
A patient with progressive myoclonus epilepsy and Lafora bodies in the central nervous system also has a material with staining properties similar to polyglucosans in other organs. This suggests that Lafora disease is a glycometabolic disorder (Harriman et al. 1955). Liver biopsy (Inoue et al. 1974; Nishimura et al. 1980), muscle biopsy (Carpenter et al. 1974) and skin biopsy (Carpenter et al. ...
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15 صفحه اولUnusual Course of Lafora Disease
A 42-year-old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy. After exclusion of acquired disorders, diagnostic work-up included application of next-generation sequencing (NGS), with a gene panel targeting progres...
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ژورنال
عنوان ژورنال: Journal of the Turkish Epilepsi Society
سال: 2021
ISSN: 1300-7157
DOI: 10.14744/epilepsi.2021.28863