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 thi...

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Detalles Bibliográficos
Autores principales: Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750610/
https://www.ncbi.nlm.nih.gov/pubmed/26937413
http://dx.doi.org/10.1016/j.ymgmr.2015.07.005
Descripción
Sumario: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 work we aimed at the characterization of this mutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and add to the knowledge on this disease.

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