Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

The versatile Kv channels in the nervous system: actions beyond action potentials

(2020) Louis W. C. Chow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

(2019) Jillian M. Cameron et al.   Annals of Clinical and Translational Neurology

KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum

(2019) Joohyun Park et al.   Annals of Clinical and Translational Neurology

Pharmacological rescue of mutated K v 3.1 ion-channel linked to progressive myoclonus epilepsies

(2018) Anders Sonne Munch et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1

(2018) Ravi Chopra et al.   PLoS One

Loss of Function of KCNC1 is associated with intellectual disability without seizures

(2017) Karine Poirier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2

(2017) James M Dell’Orco et al.   HUMAN MOLECULAR GENETICS

K v 3.1/K v 3.2 channel positive modulators enable faster activating kinetics and increase firing frequency in fast-spiking GABAergic interneurons

(2017) Kim Boddum et al.   NEUROPHARMACOLOGY

Kv3 Channels: Enablers of Rapid Firing, Neurotransmitter Release, and Neuronal Endurance

(2017) Leonard K. Kaczmarek et al.   PHYSIOLOGICAL REVIEWS

Mutations in Membrin/ GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity

(2017) Roman Praschberger et al.   Cell Reports

Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating

(2016) Yalan Zhang et al.   CELL

A viral strategy for targeting and manipulating interneurons across vertebrate species

(2016) Jordane Dimidschstein et al.   NATURE NEUROSCIENCE

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability

(2015) J. M. Dell'Orco et al.   JOURNAL OF NEUROSCIENCE

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

Biophysics, pathophysiology, and pharmacology of ion channel gating pores

(2014) Adrien Moreau et al.   Frontiers in Pharmacology

Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis

(2013) Chunqiao Liu et al.   HUMAN MOLECULAR GENETICS

Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells

(2013) Tomohiko Irie et al.   JOURNAL OF PHYSIOLOGY-LONDON

Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation

(2013) Takahiro Yasuda et al.   JOURNAL OF PHYSIOLOGY-LONDON

Kv3.1-containing K+ channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs

(2013) M Yanagi et al.   MOLECULAR PSYCHIATRY

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

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

Pathophysiological Role of Omega Pore Current in Channelopathies

(2012) Karin Jurkat-Rott et al.   Frontiers in Pharmacology

Alternative Splicing Regulates Kv3.1 Polarized Targeting to Adjust Maximal Spiking Frequency

(2011) Yuanzheng Gu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Brain Expression of Kv3 Subunits During Development, Adulthood and Aging and in a Murine Model of Alzheimer’s Disease

(2011) Enrica Boda et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Planar Cell Polarity Signaling: From Fly Development to Human Disease

(2008) Matias Simons et al.   Annual Review of Genetics