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Characterization of a rare Unverricht-Lundborg disease mutation.

ABSTRACT: 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.

SUBMITTER: Duarte AJ

PROVIDER: S-EPMC4750610 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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Characterization of a rare Unverricht-Lundborg disease mutation.

Duarte Ana Joana AJ Ribeiro Diogo D Chaves João J Amaral Olga O

Molecular genetics and metabolism reports 20150805

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 a ...[more]

PMID: 26937413

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