| Q42599483 | A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated. |
| Q59809830 | A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms |
| Q47422985 | A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. |
| Q36516769 | A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. |
| Q91841215 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| Q36042053 | Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism |
| Q100731201 | Andersen-Tawil Syndrome Presenting with Complete Heart Block |
| Q90289933 | 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 |
| Q52708162 | Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. |
| Q60243234 | De novo KCNA2 mutations cause hereditary spastic paraplegia |
| Q55176457 | Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. |
| Q92625493 | Genotype-phenotype association in patients with SCN4A mutation - Authors' reply |
| Q96124354 | Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome |
| Q55512224 | Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. |
| Q41273672 | Hypokalemic periodic paralysis: an omega pore mutation affects inactivation |
| Q36445714 | Hysteresis in the voltage dependence of HCN channels: conversion between two modes affects pacemaker properties |
| Q97540072 | Improving genetic diagnostics of skeletal muscle channelopathies |
| Q89745056 | In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis |
| Q39356763 | Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms |
| Q36615476 | Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. |
| Q35809965 | Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities. |
| Q24681855 | Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels |
| Q36436655 | Molecular movement of the voltage sensor in a K channel |
| Q38246030 | Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. |
| Q42994252 | Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin |
| Q35043410 | 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 |
| Q64120540 | Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4 |
| Q91473823 | Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation |
| Q30600757 | Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis |
| Q38909233 | Pharmacological and electrophysiological characterization of AZSMO-23, an activator of the hERG K(+) channel |
| Q41819839 | Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel. |
| Q92803769 | Possible role of SCN4A skeletal muscle mutation in apnea during seizure |
| Q33574054 | Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene |
| Q112080682 | Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy |
| Q52325902 | Spider toxin inhibits gating pore currents underlying periodic paralysis. |
| Q36908155 | Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. |
| Q44192179 | Voltage-sensing mechanism is conserved among ion channels gated by opposite voltages. |