De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing

(2017) Elizabeth A. Ferrick-Kiddie et al.   Scientific Reports

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

Mutations inHECW2are associated with intellectual disability and epilepsy

(2016) Jonatan Halvardson et al.   JOURNAL OF MEDICAL GENETICS

Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy

(2015) S.D.J. Pena et al.   CLINICAL GENETICS

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

(2015) Steffen Syrbe et al.   NATURE GENETICS

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

(2015) Catherine A. Brownstein et al.   NEUROGENETICS

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

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes

(2012) Jing Zhu et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

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

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

(2008) P. Imbrici et al.   NEUROSCIENCE