title: 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.
authors.affiliation: Departamento de Genética Humana, Unidade I&D-P DLS, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
authors.forename: Ana Joana
authors.initials: AJ
authors.lastname: Duarte
authors.affiliation: Departamento de Genética Humana, Unidade I&D-P DLS, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
authors.forename: Diogo
authors.initials: D
authors.lastname: Ribeiro
authors.affiliation: Serviço de Neurologia, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: João
authors.initials: J
authors.lastname: Chaves
authors.affiliation: Departamento de Genética Humana, Unidade I&D-P DLS, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
authors.forename: Olga
authors.initials: O
authors.lastname: Amaral
keywords: AD, allelic discrimination; CSTB, cystatin B gene; Cell fraction; Cstb, cystatin B protein; Cystatin B mutation; Genetics; IF, immunofluorescence; PME, progressive myoclonic epilepsy; Progressive myoclonic epilepsy; RT-PCR, Real-Time PCR; Rare disease; ULD, Unverricht–Lundborg disease; Unverricht–Lundborg disease; WB, Western Blot