A recurrent mutation inKCNA2as a novel cause of hereditary spastic paraplegia and ataxia

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

(2016) Rebecca Schüle et al.   ANNALS OF NEUROLOGY

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum

(2016) Khaled Hundallah et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Genetics of the epilepsies

(2013) Ingo Helbig et al.   CURRENT OPINION IN NEUROLOGY

Genetics of dizziness

(2013) Teresa Requena et al.   CURRENT OPINION IN NEUROLOGY

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Effect of Sensor Domain Mutations on the Properties of Voltage-Gated Ion Channels: Molecular Dynamics Studies of the Potassium Channel Kv1.2

(2010) Lucie Delemotte et al.   BIOPHYSICAL JOURNAL

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

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

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