Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery

HCN Channel as Therapeutic Targets for Heart Failure and Pain

(2016) Ying Cao et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Carnitine deficiency induces a short QT syndrome

(2016) Julien Roussel et al.   HEART RHYTHM

Kidney CLC-K chloride channels inhibitors

(2016) Antonella Liantonio et al.   JOURNAL OF HYPERTENSION

KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects

(2016) Chiao Xin Lim et al.   JOURNAL OF MEDICAL GENETICS

A Tale of 2 Diseases

(2016) Ofer Havakuk et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis

(2016) Valeria A. Sansone et al.   NEUROLOGY

Biophysics and Physiology of the Volume-Regulated Anion Channel (VRAC)/Volume-Sensitive Outwardly Rectifying Anion Channel (VSOR)

(2016) Stine F. Pedersen et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells

(2016) Jonathan Pini et al.   STEM CELLS AND DEVELOPMENT

Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms

(2016) Qiong-Yao Tang et al.   Cell Reports

Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?

(2015) Vinson Diep et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sodium channel slow inactivation as a therapeutic target for myotonia congenita

(2015) Kevin R. Novak et al.   ANNALS OF NEUROLOGY

Pharmacotherapy of vestibular and cerebellar disorders and downbeat nystagmus: translational and back-translational research

(2015) Michael Strupp et al.   Annals of the New York Academy of Sciences

Sodium Channel β Subunits: Emerging Targets in Channelopathies

(2015) Heather A. O'Malley et al.   Annual Review of Physiology

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

Dissecting the phenotypes of Dravet syndrome by gene deletion

(2015) Moran Rubinstein et al.   BRAIN

Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

(2015) Irina T. Zaharieva et al.   BRAIN

ClC-5: Physiological role and biophysical mechanisms

(2015) Michael Pusch et al.   CELL CALCIUM

Role of volume-regulated and calcium-activated anion channels in cell volume homeostasis, cancer and drug resistance

(2015) Else K Hoffmann et al.   Channels

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita

(2015) Mauro Lo Monaco et al.   CLINICAL NEUROPHYSIOLOGY

Current understanding of the mechanism of action of the antiepileptic drug lacosamide

(2015) Michael A. Rogawski et al.   EPILEPSY RESEARCH

A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia

(2015) Mirko Baruscotti et al.   EUROPEAN HEART JOURNAL

Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability

(2015) Albert Snowball et al.   FEBS LETTERS

CaV3.2 calcium channels control NMDA receptor-mediated transmission: a new mechanism for absence epilepsy

(2015) Guangfu Wang et al.   GENES & DEVELOPMENT

Mutation Update of theCLCN5Gene Responsible for Dent Disease 1

(2015) Lamisse Mansour-Hendili et al.   HUMAN MUTATION

Induced Pluripotent Stem Cells and Their Use in Cardiac and Neural Regenerative Medicine

(2015) Stepanka Skalova et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional

(2015) Kim Vanessa Steinke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Targeting ion channels in cystic fibrosis

(2015) Marcus A. Mall et al.   Journal of Cystic Fibrosis

Personalized medicine approaches in epilepsy

(2015) L. E. Walker et al.   JOURNAL OF INTERNAL MEDICINE

The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction

(2015) Raffaella Milanesi et al.   JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY

Voltage-Gated Sodium Channels: Structure, Function, Pharmacology, and Clinical Indications

(2015) Manuel de Lera Ruiz et al.   JOURNAL OF MEDICINAL CHEMISTRY

Genetic neurological channelopathies: molecular genetics and clinical phenotypes

(2015) J Spillane et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation

(2015) M. Estacion et al.   JOURNAL OF NEUROPHYSIOLOGY

Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits

(2015) F. Miceli et al.   JOURNAL OF NEUROSCIENCE

Discovery of CLC transport proteins: cloning, structure, function and pathophysiology

(2015) Thomas J. Jentsch   JOURNAL OF PHYSIOLOGY-LONDON

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation

(2015) P. Imbrici et al.   JOURNAL OF PHYSIOLOGY-LONDON

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics

(2015) Pietro Fratta et al.   LANCET NEUROLOGY

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

(2015) Silvia Romano et al.   LANCET NEUROLOGY

Pharmacotherapy for neuropathic pain in adults: a systematic review and meta-analysis

(2015) Nanna B Finnerup et al.   LANCET NEUROLOGY

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

(2015) Giulia Bechi et al.   NEUROBIOLOGY OF DISEASE

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

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

(2015) Karima Habbout et al.   NEUROLOGY

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

(2015) Simona Portaro et al.   NEUROMOLECULAR MEDICINE

Pharmacology of acid-sensing ion channels – Physiological and therapeutical perspectives

(2015) Anne Baron et al.   NEUROPHARMACOLOGY

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

(2015) Alena Welters et al.   Orphanet Journal of Rare Diseases

Role of pharmacotherapy in cardiac ion channelopathies

(2015) Nabil El-Sherif et al.   PHARMACOLOGY & THERAPEUTICS

Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

(2015) Samuel Heyes et al.   PROGRESS IN NEUROBIOLOGY

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels

(2015) Francesco Miceli et al.   Frontiers in Cellular Neuroscience

MLC1 protein: a likely link between leukodystrophies and brain channelopathies

(2015) Maria S. Brignone et al.   Frontiers in Cellular Neuroscience

ClC-1 chloride channels: state-of-the-art research and future challenges

(2015) Paola Imbrici et al.   Frontiers in Cellular Neuroscience

Update on the implication of potassium channels in autism: K+ channelautism spectrum disorder

(2015) Luca Guglielmi   Frontiers in Cellular Neuroscience

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

(2015) Maria Cristina D’Adamo et al.   Frontiers in Cellular Neuroscience

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

(2015) Enrico Leipold et al.   Nature Communications

Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia

(2015) Lauren M. Watson et al.   Open Biology

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies

(2015) Karen Joan Suetterlin et al.   JAMA Neurology

Inhibition of voltage-gated sodium channels by sumatriptan bioisosteres

(2015) Roberta Carbonara et al.   Frontiers in Pharmacology

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

(2015) Maria C. D'Adamo et al.   Frontiers in Physiology

Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2

(2015) Mattia Capulli et al.   Molecular Therapy-Nucleic Acids

Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome

(2015) An-Sofie Schoonjans et al.   Therapeutic Advances in Neurological Disorders

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea

(2015) Eva Lau et al.   Archives of Endocrinology Metabolism

Calcium Channel Mutations in Cardiac Arrhythmia Syndromes

(2015) Matthew Betzenhauser et al.   Current Molecular Pharmacology

Generating Human Neurons In Vitro and Using Them to Understand Neuropsychiatric Disease

(2014) Sergiu P. Paşca et al.   Annual Review of Neuroscience

Sodium Channels, Inherited Epilepsy, and Antiepileptic Drugs

(2014) William A. Catterall   Annual Review of Pharmacology and Toxicology

Targeting kidney CLC-K channels: Pharmacological profile in a human cell line versus Xenopus oocytes

(2014) Paola Imbrici et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Recent progress in sodium channel modulators for pain

(2014) Sharan K. Bagal et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions

(2014) S. Weinert et al.   EMBO REPORTS

Modulation of peripheral Na+ channels and neuronal firing by n-butyl-p-aminobenzoate

(2014) Olivier Thériault et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Kv7 channels as targets for anti-epileptic and psychiatric drug-development

(2014) Morten Grunnet et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Repurposing of sodium channel antagonists as potential new anti-myotonic drugs

(2014) E. Matthews et al.   EXPERIMENTAL NEUROLOGY

Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs

(2014) Jean-François Desaphy et al.   EXPERIMENTAL NEUROLOGY

Treatment of Bartter syndrome. Unsolved issue

(2014) Carla Lessa Pena Nascimento et al.   Jornal de Pediatria

N-Aryl-2,6-dimethylbenzamides, a New Generation of Tocainide Analogues as Blockers of Skeletal Muscle Voltage-Gated Sodium Channels

(2014) Marilena Muraglia et al.   JOURNAL OF MEDICINAL CHEMISTRY

The insulin-sensitivity sulphonylurea receptor variant is associated with thyrotoxic paralysis

(2014) Ana Luiza R Rolim et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Painful neuropathies: the emerging role of sodium channelopathies

(2014) Brigitte A. Brouwer et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use

(2014) Stephen G Waxman et al.   LANCET NEUROLOGY

Painful and painless channelopathies

(2014) David L H Bennett et al.   LANCET NEUROLOGY

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1

(2014) Y. Kokunai et al.   NEUROLOGY

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia

(2014) A. Furby et al.   NEUROMUSCULAR DISORDERS

Clinical Experience With Long-Term Acetazolamide Treatment in Children With Nondystrophic Myotonias: A Three-Case Report

(2014) Joekie M. Markhorst et al.   PEDIATRIC NEUROLOGY

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction

(2014) Maja B. Hoegg-Beiler et al.   Nature Communications

Biophysics, pathophysiology, and pharmacology of ion channel gating pores

(2014) Adrien Moreau et al.   Frontiers in Pharmacology

The renal channelopathies

(2014) KW Loudon et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

(2013) Xiang Yang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combined Modifications of Mexiletine Pharmacophores for New Lead Blockers of Nav1.4 Channels

(2013) Michela De Bellis et al.   BIOPHYSICAL JOURNAL

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function in infantile malignant osteopetrosis

(2013) Ilana Moscatelli et al.   BONE

Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

(2013) Fenfen Wu et al.   BRAIN

Transient receptor potential (TRP) channels: a clinical perspective

(2013) Yosuke Kaneko et al.   BRITISH JOURNAL OF PHARMACOLOGY

Channel gating pore: a new therapeutic target

(2013) Polina Kornilov et al.   CELL RESEARCH

The gating charge pathway of an epilepsy-associated potassium channel accommodates chemical ligands

(2013) Ping Li et al.   CELL RESEARCH

Consensus Paper: Management of Degenerative Cerebellar Disorders

(2013) W. Ilg et al.   CEREBELLUM

Targeting the inward-rectifier potassium channel ROMK in cardiovascular disease

(2013) Maria L Garcia et al.   CURRENT OPINION IN PHARMACOLOGY

Targeting sodium channels in cardiac arrhythmia

(2013) Carol Ann Remme et al.   CURRENT OPINION IN PHARMACOLOGY

Genotype- and Phenotype-Guided Management of Congenital Long QT Syndrome

(2013) John R. Giudicessi et al.   CURRENT PROBLEMS IN CARDIOLOGY

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

(2013) J Helen Cross et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The puzzle of TRPV4 channelopathies

(2013) Bernd Nilius et al.   EMBO REPORTS

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes

(2013) Silvia G. Priori et al.   EUROPACE

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

(2013) Jean-François Desaphy et al.   EXPERIMENTAL NEUROLOGY

Modifiers of heart and muscle function: where genetics meets physiology

(2013) Kayleigh A. Swaggart et al.   EXPERIMENTAL PHYSIOLOGY

Andersen–Tawil syndrome: Clinical and molecular aspects

(2013) Hoai-Linh Nguyen et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

(2013) C. Han et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mechanisms by which aCACNA1Hmutation in epilepsy patients increases seizure susceptibility

(2013) Veit-Simon Eckle et al.   JOURNAL OF PHYSIOLOGY-LONDON

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

(2013) Christel Depienne et al.   LANCET NEUROLOGY

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

(2013) Jocelyn F Krey et al.   NATURE NEUROSCIENCE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Novel SCN3A variants associated with focal epilepsy in children

(2013) Carlos G. Vanoye et al.   NEUROBIOLOGY OF DISEASE

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

(2013) T. T. Chen et al.   NEUROLOGY

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation

(2013) J. Yuan et al.   NEUROLOGY

Emerging Role of Calcium-Activated Potassium Channel in the Regulation of Cell Viability Following Potassium Ions Challenge in HEK293 Cells and Pharmacological Modulation

(2013) Domenico Tricarico et al.   PLoS One

Voltage sensor interaction site for selective small molecule inhibitors of voltage-gated sodium channels

(2013) K. McCormack et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

(2013) S. Cestele et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Modeling Timothy Syndrome with iPS Cells

(2013) Masayuki Yazawa et al.   Journal of Cardiovascular Translational Research

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Pathophysiology of Migraine

(2012) Daniela Pietrobon et al.   Annual Review of Physiology

Gating Currents from Kv7 Channels Carrying Neuronal Hyperexcitability Mutations in the Voltage-Sensing Domain

(2012) Francesco Miceli et al.   BIOPHYSICAL JOURNAL

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene

(2012) Augusto Luque de Pablos et al.   CLINICAL NEPHROLOGY

Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: Initial monotherapy outcomes at 12 months

(2012) Tracy A. Glauser et al.   EPILEPSIA

SCN1A mutations in Dravet syndrome: Impact of interneuron dysfunction on neural networks and cognitive outcome

(2012) Alex C. Bender et al.   EPILEPSY & BEHAVIOR

The antidepressant drug fluoxetine inhibits persistent sodium currents and seizure-like events

(2012) Kajsa M. Igelström et al.   EPILEPSY RESEARCH

Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

(2012) Jean-François Desaphy et al.   EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY

Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia

(2012) Jeffrey M. Statland   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis

(2012) Wallaya Jongjaroenprasert et al.   JOURNAL OF HUMAN GENETICS

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

(2012) Rosanna Cardani et al.   JOURNAL OF NEUROLOGY

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

(2012) Natali A. Minassian et al.   JOURNAL OF PHYSIOLOGY-LONDON

Voltage-gated sodium channels at 60: structure, function and pathophysiology

(2012) William A. Catterall   JOURNAL OF PHYSIOLOGY-LONDON

Voltage-gated potassium channels and the diversity of electrical signalling

(2012) Lily Yeh Jan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Splicing of the rSlo Gene Affects the Molecular Composition and Drug Response of Ca2+-Activated K+ Channels in Skeletal Muscle

(2012) Maria Maddalena Dinardo et al.   PLoS One

Gain-of-function Nav1.8 mutations in painful neuropathy

(2012) C. G. Faber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Nav1.7 mutant channel

(2012) Yang Yang et al.   Nature Communications

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain

(2011) Paola Imbrici et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

(2011) Catharina G. Faber et al.   ANNALS OF NEUROLOGY

Genetic modifiers of neurological disease

(2011) Jennifer A Kearney   CURRENT OPINION IN GENETICS & DEVELOPMENT

New and forthcoming anti-epileptic drugs

(2011) Paolo Prunetti et al.   CURRENT OPINION IN NEUROLOGY

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis

(2011) Chih-Jen Cheng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In-vivo administration of CLC-K kidney chloride channels inhibitors increases water diuresis in rats

(2011) Antonella Liantonio et al.   JOURNAL OF HYPERTENSION

New Molecular Mechanisms for Cardiovascular Disease: Cardiac Hypertrophy and Cell-Volume Regulation

(2011) Shintaro Yamamoto et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

(2011) Federico Sicca et al.   NEUROBIOLOGY OF DISEASE

Congenital hyperinsulinism: current trends in diagnosis and therapy

(2011) Jean-Baptiste Arnoux et al.   Orphanet Journal of Rare Diseases

Driving With No Brakes: Molecular Pathophysiology of Kv7 Potassium Channels

(2011) Maria Virginia Soldovieri et al.   PHYSIOLOGY

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recent Developments Regarding Voltage-Gated Sodium Channel Blockers for the Treatment of Inherited and Acquired Neuropathic Pain Syndromes

(2011) Jonathan W. Theile et al.   Frontiers in Pharmacology

Recent Advances in the Pathogenesis and Drug Action in Periodic Paralyses and Related Channelopathies

(2011) Domenico Tricarico et al.   Frontiers in Pharmacology

Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine

(2010) Taku Omata et al.   BRAIN & DEVELOPMENT

Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

(2010) Devon P. Ryan et al.   CELL

Trafficking Defects and Gating Abnormalities of a Novel SCN5A Mutation Question Gene-Specific Therapy in Long QT Syndrome Type 3

(2010) Yanfei Ruan et al.   CIRCULATION RESEARCH

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10)

(2010) Monica Sala-Rabanal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents

(2010) Brian W. Jarecki et al.   JOURNAL OF CLINICAL INVESTIGATION

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

(2010) Stanislav Sokolov et al.   JOURNAL OF GENERAL PHYSIOLOGY

The Therapeutic Mode of Action of 4-Aminopyridine in Cerebellar Ataxia

(2010) K. Alvina et al.   JOURNAL OF NEUROSCIENCE

KCa Channels as Therapeutic Targets in Episodic Ataxia Type-2

(2010) K. Alvina et al.   JOURNAL OF NEUROSCIENCE

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

(2010) E. Matthews et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neurological channelopathies: new insights into disease mechanisms and ion channel function

(2010) Dimitri M. Kullmann et al.   JOURNAL OF PHYSIOLOGY-LONDON

SYMPOSIUM REVIEW: The role of the KATPchannel in glucose homeostasis in health and disease: more than meets the islet

(2010) James S. McTaggart et al.   JOURNAL OF PHYSIOLOGY-LONDON

Antibodies against ClC7 inhibit extracellular acidification-induced Cl− currents and bone resorption activity in mouse osteoclasts

(2010) Kimiko Ohgi et al.   NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder

(2010) L. Lion-Francois et al.   NEUROLOGY

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome

(2010) Barbara Kremeyer et al.   NEURON

Effects of a new potent analog of tocainide on hNav1.7 sodium channels and in vivo neuropathic pain models

(2010) C. Ghelardini et al.   NEUROSCIENCE

CaV2.1 channelopathies

(2010) Daniela Pietrobon   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Inwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles

(2010) Hiroshi Hibino et al.   PHYSIOLOGICAL REVIEWS

Targeting the voltage sensor of Kv7.2 voltage-gated K+ channels with a new gating-modifier

(2010) A. Peretz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

(2010) Liang Feng et al.   SCIENCE

Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

(2010) G. Novarino et al.   SCIENCE

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

(2009) Tanya Z. Fischer et al.   ANNALS OF NEUROLOGY

CLC-7: A potential therapeutic target for the treatment of osteoporosis and neurodegeneration

(2009) Qingxiao Zhao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Synthesis and in vitro sodium channel blocking activity evaluation of novel homochiral mexiletine analogs

(2009) Alessia Carocci et al.   CHIRALITY

Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off

(2009) Jin-Sung Choi et al.   EXPERIMENTAL NEUROLOGY

Two novelCLCN2mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

(2009) C��cile Saint-Martin et al.   HUMAN MUTATION

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

(2009) Katsuya Nakamura et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy

(2009) María I Niemeyer et al.   NATURE GENETICS

Chloride channels as drug targets

(2009) Alan S. Verkman et al.   NATURE REVIEWS DRUG DISCOVERY

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

(2009) Bin Tang et al.   NEUROBIOLOGY OF DISEASE

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Enhanced Excitatory Transmission at Cortical Synapses as the Basis for Facilitated Spreading Depression in CaV2.1 Knockin Migraine Mice

(2009) Angelita Tottene et al.   NEURON

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ranolazine Shortens Repolarization in Patients with Sustained Inward Sodium Current Due to Type-3 Long-QT Syndrome

(2008) ARTHUR J. MOSS et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

(2008) A. G.H. Janssen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Dent disease presenting as partial Fanconi syndrome and hypercalciuria

(2008) J.B. Hodgin et al.   KIDNEY INTERNATIONAL

Functional properties and differential neuromodulation of Nav1.6 channels

(2008) Yuan Chen et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Molecular Determinants for the Activating/Blocking Actions of the 2H-1,4-Benzoxazine Derivatives, a Class of Potassium Channel Modulators Targeting the Skeletal Muscle KATP Channels

(2008) D. Tricarico et al.   MOLECULAR PHARMACOLOGY

Coassembly of Different Sulfonylurea Receptor Subtypes Extends the Phenotypic Diversity of ATP-sensitive Potassium (KATP) Channels

(2008) A. Wheeler et al.   MOLECULAR PHARMACOLOGY

Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome

(2008) Karine Brochard et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

(2008) Tracey D. Graves et al.   NEUROBIOLOGY OF DISEASE

Molecular switch for CLC-K Cl- channel block/activation: Optimal pharmacophoric requirements towards high-affinity ligands

(2008) A. Liantonio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reduced expression of Kir6.2/SUR2A subunits explains KATP deficiency in K+-depleted rats

(2007) Domenico Tricarico et al.   NEUROMUSCULAR DISORDERS

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance

(2007) Bernhard K Krämer et al.   Nature clinical practice. Nephrology