Roope Männikkö
6PUBLICATIONS
31CO-AUTHORS
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Publications (6)
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|Nov 01, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou
|Feb 17, 2022
Ageing contributes to phenotype transition in a mouse model of periodic paralysis.Karen J Suetterlin, S Veronica Tan, Roope Mannikko
|Jun 04, 2020
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.Andoni Echaniz-Laguna, Valérie Biancalana, Aleksandra Nadaj-Pakleza
|Nov 28, 2019
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.Michael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda
|Jul 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.Vincenzo Salpietro, Christine L Dixon, Hui Guo
|Jun 28, 2018
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.Sushan Luo, Marisol Sampedro Castañeda, Emma Matthews
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Frequent Collaborators
2 joint publications
Stephanie Efthymiou
2 joint publications
Dimitri M Kullmann
1 joint publications
Oscar D Bello
1 joint publications
Lydie Burglen
1 joint publications
Stephanie Valence
1 joint publications
Erin Torti
1 joint publications
Andreas Lieb
1 joint publications
Conceicao Bettencourt
1 joint publications
Alfredo Brusco
1 joint publications
Amy L Schneider
