Mikko Muona

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 311 citations · Full text

Genetics, Neuroscience, Central Nervous System +3

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Mikko Muona, Ryosuke Ishimura, Anni Laari et al. · The American Journal of Human Genetics · 2016 · 112 citations · Full text

Biallelic Variants, Genetics, Neuroscience +3

Myoclonus epilepsy and ataxia due to <scp><i>KCNC</i></scp><i>1</i> mutation: Analysis of 20 cases and <scp>K</scp>⁺ channel properties

Karen Oliver, Silvana Franceschetti, Carol J. Milligan et al. · Annals of Neurology · 2017 · 86 citations · Full text

Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache

Katherine M. Siewert, Derek Klarin, Scott M. Damrauer et al. · International Journal of Epidemiology · 2020 · 82 citations · Full text

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen Oliver, Eon Joo Park et al. · The American Journal of Human Genetics · 2021 · 81 citations · Full text

Medicine, Genetics, Genetic Heterogeneity +1