KNa1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons

Sodium sensitivity of KNa channels in mouse CA1 neurons

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Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

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Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels

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KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

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VU0606170, a Selective Slack Channels Inhibitor, Decreases Calcium Oscillations in Cultured Cortical Neurons

(2020) Brittany D. Spitznagel et al.   ACS Chemical Neuroscience

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome

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PTZ-induced seizures in mice require a revised Racine scale

(2019) Jan Van Erum et al.   EPILEPSY & BEHAVIOR

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(2019) Tracy S. Gertler et al.   Annals of Clinical and Translational Neurology

Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox

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A Cell Atlas for the Mouse Brain

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

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The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype

(2017) Katherine M. Evely et al.   NEUROSCIENCE

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

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Stimulation of Slack K+ Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex

(2016) Matthew R. Fleming et al.   Cell Reports

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

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

Hipposeq: a comprehensive RNA-seq database of gene expression in hippocampal principal neurons

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De novoKCNT1mutations in early-onset epileptic encephalopathy

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Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain

(2015) Sandra Rizzi et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Cryo-electron microscopy structure of the Slo2.2 Na+-activated K+ channel

(2015) Richard K. Hite et al.   NATURE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

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

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

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

Bar charts and box plots

(2014) Marc Streit et al.   NATURE METHODS

Visualizing samples with box plots

(2014) Martin Krzywinski et al.   NATURE METHODS

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

(2014) Grace E. Kim et al.   Cell Reports

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

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A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

(2013) Atsushi Ishii et al.   GENE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Dense and Overlapping Innervation of Pyramidal Neurons by Chandelier Cells

(2013) M. Inan et al.   JOURNAL OF NEUROSCIENCE

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

(2013) Adeline Vanderver et al.   PEDIATRIC 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

Mutations in potassium channel KCNT1—a novel driver of epilepsy pathogenesis

(2012) Katie Kingwell   Nature Reviews Neurology

Identification of deleterious mutations within three human genomes

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