KCNA4deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders

(2016) Elke Bocksteins   JOURNAL OF GENERAL PHYSIOLOGY

Distinctive role of KV1.1 subunit in the biology and functions of low threshold K+ channels with implications for neurological disease

(2016) Saak V. Ovsepian et al.   PHARMACOLOGY & THERAPEUTICS

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

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

(2015) Steffen Syrbe et al.   NATURE GENETICS

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

(2015) Luca Guglielmi   Frontiers in Cellular Neuroscience

Novel homozygousDEAF1variant suspected in causing white matter disease, intellectual disability, and microcephaly

(2014) Eissa A. Faqeih et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

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

(2014) Elena Ambrosini et al.   HUMAN MOLECULAR GENETICS

ISCA2mutation causes infantile neurodegenerative mitochondrial disorder

(2014) Zuhair N Al-Hassnan et al.   JOURNAL OF MEDICAL GENETICS

HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy

(2014) Annalisa Milano et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

(2013) Moeenaldeen D. Al-Sayed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

(2013) Elisabeth Stogmann et al.   BRAIN

Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity

(2013) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

LQTS in Northern BC: homozygosity forKCNQ1V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

(2013) H.A. Jackson et al.   CLINICAL GENETICS

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

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

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Dissecting the role of low-complexity regions in the evolution of vertebrate proteins

(2012) Núria Radó-Trilla et al.   BMC EVOLUTIONARY BIOLOGY

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11

(2012) M Al-Owain et al.   CLINICAL GENETICS

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death

(2012) John R. Giudicessi et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

Transient outward current (Ito) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

(2011) John R. Giudicessi et al.   HEART RHYTHM

Up-Regulation of A-Type Potassium Currents Protects Neurons Against Cerebral Ischemia

(2011) Ping Deng et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Role of Low-Complexity Sequences in the Formation of Novel Protein Coding Sequences

(2011) M. Toll-Riera et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Lens Gap Junctions in Growth, Differentiation, and Homeostasis

(2010) Richard T. Mathias et al.   PHYSIOLOGICAL REVIEWS

Age-dependent axonal expression of potassium channel proteins during development in mouse hippocampus

(2009) Harald Prüss et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

A tale of two symmetrical tails: Structural and functional characteristics of palindromes in proteins

(2008) Armita Sheari et al.   BMC BIOINFORMATICS