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

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

(2015) Pawel Tacik et al.   MAYO CLINIC PROCEEDINGS

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

(2015) Luca Guglielmi   Frontiers in Cellular Neuroscience

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

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

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

(2014) Tracey D. Graves et al.   BRAIN

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

(2014) Elena Ambrosini et al.   HUMAN MOLECULAR GENETICS

A novelKCNA1mutation causing episodic ataxia type I

(2014) Saskia Lassche et al.   MUSCLE & NERVE

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

(2013) Susan Elizabeth Tomlinson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Acetazolamide-Responsive Ataxia

(2013) Vikas Kotagal   SEMINARS IN NEUROLOGY

K+ channelepsy: progress in the neurobiology of potassium channels and epilepsy

(2013) Maria Cristina D'Adamo et al.   Frontiers in Cellular Neuroscience

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

(2012) Orazio Brunetti et al.   NEUROBIOLOGY OF DISEASE

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

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures

(2011) Saeko Ishida et al.   BRAIN RESEARCH

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

Neurological Channelopathies

(2010) Dimitri M. Kullmann   Annual Review of Neuroscience

Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1

(2010) Susan E. Tomlinson et al.   BRAIN

Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+channels to S6 flexibility and gating properties

(2010) Paola Imbrici et al.   Channels

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

(2010) T. D. Graves et al.   NEUROLOGY

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

(2009) Bob Glaudemans et al.   JOURNAL OF CLINICAL INVESTIGATION

Cell-Type-Dependent Molecular Composition of the Axon Initial Segment

(2009) A. Lorincz et al.   JOURNAL OF NEUROSCIENCE

A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction

(2009) Michelle K. Demos et al.   MOVEMENT DISORDERS

A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A

(2009) S. Rajakulendran et al.   NEUROLOGY

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

(2008) P. Imbrici et al.   NEUROSCIENCE

Localization and Targeting of Voltage-Dependent Ion Channels in Mammalian Central Neurons

(2008) Helene Vacher et al.   PHYSIOLOGICAL REVIEWS

Novel mutation inKCNA1 causes episodic ataxia with paroxysmal dyspnea

(2007) Steven J. Shook et al.   MUSCLE & NERVE