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Characterization of a rare Unverricht–Lundborg disease mutation

Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G>A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this wor...

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Principais autores: Ana Joana Duarte, Diogo Ribeiro, João Chaves, Olga Amaral
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015-09-01
Serier:Molecular Genetics and Metabolism Reports
Fag:
Unverricht–Lundborg disease
Cystatin B mutation
Progressive myoclonic epilepsy
Genetics
Cell fraction
Rare disease
Online adgang:http://www.sciencedirect.com/science/article/pii/S2214426915300239
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