| scholarly article | Q13442814 |
| P2093 | author name string | Xin Xu | |
| Xin Tian | |||
| Yuanyuan Chen | |||
| Min Yang | |||
| Yida Hu | |||
| Yi Guo | |||
| Xuefeng Wang | |||
| Yuanlin Ma | |||
| Junhong Ma | |||
| Hongnian Chen | |||
| Zijun Lin | |||
| P2860 | cites work | Classification of the epilepsies: New concepts for discussion and debate-Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology. | Q55057805 |
| De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy | Q59545957 | ||
| Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? | Q88197916 | ||
| Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites | Q90316643 | ||
| TMEM25 modulates neuronal excitability and NMDA receptor subunit NR2B degradation | Q92692047 | ||
| Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors | Q92913128 | ||
| Inhibition of Nwd1 activity attenuates neuronal hyperexcitability and GluN2B phosphorylation in the hippocampus | Q93044872 | ||
| The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors | Q24307447 | ||
| A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24308706 | ||
| The CC1-FHA tandem as a central hub for controlling the dimerization and activation of kinesin-3 KIF1A | Q27681889 | ||
| Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 | Q28274778 | ||
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| Transport of a kinesin-cargo pair along microtubules into dendritic spines undergoing synaptic plasticity. | Q33622725 | ||
| Autoinhibition of a Neuronal Kinesin UNC-104/KIF1A Regulates the Size and Density of Synapses. | Q33688210 | ||
| Wortmannin Attenuates Seizure-Induced Hyperactive PI3K/Akt/mTOR Signaling, Impaired Memory, and Spine Dysmorphology in Rats | Q33787091 | ||
| Describing the genetic architecture of epilepsy through heritability analysis | Q34174911 | ||
| KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. | Q35161567 | ||
| KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations | Q35969072 | ||
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| Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population | Q36865263 | ||
| Effects of prepubertal gonadectomy on a male-typical behavior and excitatory synaptic transmission in the amygdala | Q37310511 | ||
| The mechanisms of kinesin motor motility: lessons from the monomeric motor KIF1A. | Q37638134 | ||
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| Primer Part 1-The building blocks of epilepsy genetics | Q38844503 | ||
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| Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes | Q40184593 | ||
| Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis | Q40495854 | ||
| Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement | Q41140562 | ||
| De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy | Q41840638 | ||
| Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. | Q41918173 | ||
| Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice. | Q42243086 | ||
| Antagomirs targeting microRNA-134 increase hippocampal pyramidal neuron spine volume in vivo and protect against pilocarpine-induced status epilepticus | Q44393750 | ||
| Univariate genetic analyses of epilepsy and seizures in a population-based twin study: the Virginia Twin Registry | Q45110472 | ||
| Spine loss and other persistent alterations of hippocampal pyramidal cell dendrites in a model of early-onset epilepsy. | Q48380163 | ||
| Motor protein KIF1A is essential for hippocampal synaptogenesis and learning enhancement in an enriched environment | Q48641358 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | seizure | Q6279182 |
| P304 | page(s) | 61 | |
| P577 | publication date | 2020-02-27 | |
| P1433 | published in | Frontiers in Genetics | Q2499875 |
| P1476 | title | A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity | |
| P478 | volume | 11 |
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