A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity

TMEM25 modulates neuronal excitability and NMDA receptor subunit NR2B degradation

(2019) Haiqing Zhang et al.   JOURNAL OF CLINICAL INVESTIGATION

Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors

(2019) Kyoko Chiba et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inhibition of Nwd1 activity attenuates neuronal hyperexcitability and GluN2B phosphorylation in the hippocampus

(2019) Qin Yang et al.   EBioMedicine

Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca 2+ /CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites

(2018) Riccardo Stucchi et al.   Cell Reports

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

(2017) Zafar Iqbal et al.   PLoS One

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

(2017) Chong Kun Cheon et al.   Scientific Reports

Primer Part 1-The building blocks of epilepsy genetics

(2016) Ingo Helbig et al.   EPILEPSIA

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

(2016) Leslie Hotchkiss et al.   JOURNAL OF CHILD NEUROLOGY

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

Reducing premature KCC2 expression rescues seizure susceptibility and spine morphology in atypical febrile seizures

(2016) Patricia N. Awad et al.   NEUROBIOLOGY OF DISEASE

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

(2016) Hisham Megahed et al.   Orphanet Journal of Rare Diseases

Transport of a kinesin-cargo pair along microtubules into dendritic spines undergoing synaptic plasticity

(2016) Derrick P. McVicker et al.   Nature Communications

Autoinhibition of a Neuronal Kinesin UNC-104/KIF1A Regulates the Size and Density of Synapses

(2016) Shinsuke Niwa et al.   Cell Reports

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

(2015) Andrea Citterio et al.   JOURNAL OF NEUROLOGY

Describing the genetic architecture of epilepsy through heritability analysis

(2014) Doug Speed et al.   BRAIN

Antagomirs targeting microRNA-134 increase hippocampal pyramidal neuron spine volume in vivo and protect against pilocarpine-induced status epilepticus

(2014) Eva M. Jimenez-Mateos et al.   Brain Structure & Function

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

(2014) Jae-Ran Lee et al.   HUMAN MUTATION

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Motor Protein KIF1A Is Essential for Hippocampal Synaptogenesis and Learning Enhancement in an Enriched Environment

(2012) Makoto Kondo et al.   NEURON

Dendritic spine pathology in epilepsy: Cause or consequence?

(2012) M. Wong et al.   NEUROSCIENCE

The CC1-FHA Tandem as a Central Hub for Controlling the Dimerization and Activation of Kinesin-3 KIF1A

(2012) Lin Huo et al.   STRUCTURE

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Spontaneous Seizures and Altered Gene Expression in GABA Signaling Pathways in a mind bomb Mutant Zebrafish

(2010) G. A. Hortopan et al.   JOURNAL OF NEUROSCIENCE

The mechanisms of kinesin motor motility: lessons from the monomeric motor KIF1A

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Effects of prepubertal gonadectomy on a male-typical behavior and excitatory synaptic transmission in the amygdala

(2008) Bradley M. Cooke et al.   Developmental Neurobiology