| 概要 |
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. The mutations in the CSTB gene encoding cystatin B are responsible for this disease.
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| 著者 |
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM |
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| 著者 |
Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E |
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