Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures

(2018) Priyanka Madaan et al.   BRAIN & DEVELOPMENT

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature

(2018) Elie Abdelnour et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Slack KNa channels influence dorsal horn synapses and nociceptive behavior

(2017) Katherine M Evely et al.   Molecular Pain

Precision therapy for epilepsy due toKCNT1mutations

(2017) Saul A. Mullen et al.   NEUROLOGY

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

(2017) Amy McTague et al.   NEUROLOGY

Mesial temporal lobe epilepsy associated with KCNT1 mutation

(2017) N. Hansen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation

(2016) Pin Fee Chong et al.   ANNALS OF NEUROLOGY

Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy

(2016) Tatsuo Mori et al.   BRAIN & DEVELOPMENT

KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects

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

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

(2016) Francesca Rizzo et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A targeted resequencing gene panel for focal epilepsy

(2016) Michael S. Hildebrand et al.   NEUROLOGY

Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate

(2016) Maria Virginia Soldovieri et al.   Scientific Reports

Quinidine in the treatment of KCNT1-positive epilepsies

(2015) Mohamad A Mikati et al.   ANNALS OF NEUROLOGY

De novoKCNT1mutations in early-onset epileptic encephalopathy

(2015) Chihiro Ohba et al.   EPILEPSIA

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

The contribution of next generation sequencing to epilepsy genetics

(2015) Rikke S. Møller et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

QT interval prolongation in a patient with LQT2 on levetiracetam

(2015) Naoum P. Issa et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Knockout of Slo2.2 enhances itch, abolishes KNa current, and increases action potential firing frequency in DRG neurons

(2015) Pedro L Martinez-Espinosa et al.   eLife

A channel for precision diagnosis and treatment in genetic epilepsy

(2014) Annapurna Poduri   ANNALS OF NEUROLOGY

Targeted treatment of migrating partial seizures of infancy with quinidine

(2014) David Bearden et al.   ANNALS OF NEUROLOGY

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

(2014) Carol J. Milligan et al.   ANNALS OF NEUROLOGY

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Functional and biochemical interaction between PPARα receptors and TRPV1 channels: Potential role in PPARα agonists-mediated analgesia

(2014) Paolo Ambrosino et al.   PHARMACOLOGICAL RESEARCH

Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome

(2014) Jyh-Ming Jimmy Juang et al.   Scientific Reports

Genetic heterogeneity in malignant migrating partial seizures of infancy

(2013) Pasquale Striano et al.   ANNALS OF NEUROLOGY

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

The RCK2 Domain Uses a Coordination Site Present in Kir Channels to Confer Sodium Sensitivity to Slo2.2 Channels

(2010) Z. Zhang et al.   JOURNAL OF NEUROSCIENCE

NAD+ Activates KNa Channels in Dorsal Root Ganglion Neurons

(2009) T. J. Tamsett et al.   JOURNAL OF NEUROSCIENCE