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Unverricht–lundborg disease: report of a new mutation

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Abstract(s)

P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.

Description

AJD e DR: bolseiros FCT.

Keywords

Doenças Genéticas Genetic Disease Epilepsy

Pedagogical Context

Citation

Epilepsia. 2011;52(Suppl. 6):97

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Wiley-Blackwell

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