List of works - Roope Mannikko

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.

scientific article published on 3 May 2011

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

scientific article published on 01 December 2018

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

scientific article published on 8 June 2016

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

scientific article published on 11 December 2015

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

scientific article

Andersen-Tawil Syndrome Presenting with Complete Heart Block

scientific article published on 13 October 2020

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel

scientific article published on 04 September 2019

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

scientific article published on 8 February 2017

De novo KCNA2 mutations cause hereditary spastic paraplegia

scientific article published on 01 February 2017

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

scientific article published on 5 April 2018

Genotype-phenotype association in patients with SCN4A mutation - Authors' reply

scientific article published on 06 June 2019

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

scientific article published on 02 June 2020

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

scientific article published on 26 June 2018

Hypokalemic periodic paralysis: an omega pore mutation affects inactivation

scientific article published on July 2015

Hysteresis in the voltage dependence of HCN channels: conversion between two modes affects pacemaker properties

scientific article

Improving genetic diagnostics of skeletal muscle channelopathies

scientific article published on 12 July 2020

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis

scientific article published on 27 January 2020

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms

scientific article published on 18 December 2009

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities.

scientific article published on 18 January 2012

Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels

scientific article

Molecular movement of the voltage sensor in a K channel

scientific article

Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

scientific article published on October 2014

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin

scientific article published in July 2010

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes

scientific article

Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4

scientific article published on 01 March 2019

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

scientific article published on 26 November 2019

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

scientific article

Pharmacological and electrophysiological characterization of AZSMO-23, an activator of the hERG K(+) channel

scientific article

Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

scientific article published on 10 August 2009

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

scientific article published on 01 July 2019

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

scientific article

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

scientific article published on 18 March 2021

Spider toxin inhibits gating pore currents underlying periodic paralysis

scientific article published on 10 April 2018

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

scientific article published on 31 March 2016

Voltage-sensing mechanism is conserved among ion channels gated by opposite voltages.

scientific article published in October 2002

List of works by Roope Mannikko

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

Andersen-Tawil Syndrome Presenting with Complete Heart Block

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

De novo KCNA2 mutations cause hereditary spastic paraplegia

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Genotype-phenotype association in patients with SCN4A mutation - Authors' reply

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Hypokalemic periodic paralysis: an omega pore mutation affects inactivation

Hysteresis in the voltage dependence of HCN channels: conversion between two modes affects pacemaker properties

Improving genetic diagnostics of skeletal muscle channelopathies

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities.

Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels

Molecular movement of the voltage sensor in a K channel

Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes

Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Pharmacological and electrophysiological characterization of AZSMO-23, an activator of the hERG K(+) channel

Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

Spider toxin inhibits gating pore currents underlying periodic paralysis

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

Voltage-sensing mechanism is conserved among ion channels gated by opposite voltages.