A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, +47

Nature Genetics

GeneticsNeuroscienceCentral Nervous SystemMedicinePotassium Homeostasis +1

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

Mikko Muona, Ryosuke Ishimura, Anni Laari, +25

The American Journal of Human Genetics

Biallelic VariantsGeneticsNeuroscienceSevere Infantile-onset EncephalopathyNeuropathology +1

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, +37

Annals of Neurology

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

Katherine M. Siewert, Derek Klarin, Scott M. Damrauer, +129

International Journal of Epidemiology

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

Carolina Courage, Karen Oliver, Eon Joo Park, +36

The American Journal of Human Genetics

MedicineGeneticsGenetic HeterogeneityPathology

A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

Yanjun Guo, Pamela M. Rist, Iyas Daghlas, +132

Nature Communications

Segmental isotopic labeling of multi-domain and fusion proteins by protein trans-splicing in vivo and in vitro

Mikko Muona, A. Sesilja Aranko, Vytas Raulinaitis, +1

Nature Protocols

Protein FunctionProtein ExpressionNatural SciencesProtein Trans-splicingMolecular Biology +8

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

Eija Gaily, Anna‐Kaisa Anttonen, Leena Valanne, +7

Epilepsia

Mutation of the nuclear lamin gene<i>LMNB2</i>in progressive myoclonus epilepsy with early ataxia

John A. Damiano, Zaid Afawi, Melanie Bahlo, +17

Human Molecular Genetics

Neurological DisorderProgressive Myoclonus EpilepsyGeneticsEarly AtaxiaNuclear Lamina +16

Segmental Isotopic Labelling of a Multidomain Protein by Protein Ligation by Protein Trans‐Splicing

Mikko Muona, A. Sesilja Aranko, Hideo Iwaï

ChemBioChem