Unverricht-Lundborg disease
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2019.10.816
Abstract: Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus… read more here.
Keywords: lundborg disease; unverricht lundborg;
Étude descriptive des patients réunionnais adultes suivis pour une épilepsie myoclonique progressive de Unverricht-Lundborg : évaluation de la qualité de vie et de son évolution sous Pérampanel
Sign Up to like & getrecommendations! Published in 2020 at "Revue neurologique"
DOI: 10.1016/j.neurol.2020.01.070
Abstract: Introduction La Maladie d’Unverricht-Lundborg (MUL) est la forme la plus frequente d’epilepsie myoclonique progressive. Sa prevalence est dix fois superieure a La Reunion, du a « l’effet fondateur ». Objectifs Creation et description de la cohorte reunionnaise de… read more here.
Keywords: unverricht lundborg; myoclonique progressive; adultes suivis; qualite vie ... See more keywords
Comorbidities in patients with Unverricht–Lundborg disease (EPM1)
Sign Up to like & getrecommendations! Published in 2022 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13706
Abstract: Unverricht‐Lundborg disease (EPM1) typically leads to accumulating disability. Disability may also be caused by comorbidities but there are no data available on these. read more here.
Keywords: comorbidities patients; lundborg disease; patients unverricht; unverricht lundborg ... See more keywords
A novel c132‐134del mutation in Unverricht‐Lundborg disease and the review of literature of heterozygous compound patients
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DOI: 10.1111/epi.13626
Abstract: Unverricht‐Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3. The most common mutation is an expansion of… read more here.
Keywords: lundborg disease; unverricht lundborg; heterozygous compound; mutation ... See more keywords