Evidence map›Paper›PMID 29949095›Full record

ArticleCerebellum (London, England)2018

C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.

Swati Khare, Kira Galeano, Yalan Zhang, Jerelyn A Nick, Harry S Nick, S H Subramony, Jacinda Sampson, Leonard K Kaczmarek, Michael F Waters

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebellum (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 45% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Understanding the molecular diversity of synapses.Nature reviews. Neuroscience · 2025
    Review
  2. Review
  3. Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence ofInternational journal of molecular sciences · 2024
    Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 5 institutions in 1 country.

Swati KhareDepartment of Biomedical Engineering, University of Florida, Gainesville, FL, USA.
Kira GaleanoDepartment of Neurology, University of Florida, Gainesville, FL, USA.
Yalan ZhangDepartment of Pharmacology, Yale University, New Haven, CT, USA.
Jerelyn A NickDepartment of Neuroscience, University of Florida, Gainesville, FL, USA.
Harry S NickDepartment of Neuroscience, University of Florida, Gainesville, FL, USA.
S H SubramonyDepartment of Neurology, University of Florida, Gainesville, FL, USA.
Jacinda SampsonDepartment of Neurology, Stanford University, Stanford, CA, USA.
Leonard K KaczmarekDepartment of Pharmacology, Yale University, New Haven, CT, USA.
Michael F WatersDepartment of Neurology, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, 350 W. Thomas Rd., Phoenix, AZ, 85013, USA. Michael.Waters@DignityHealth.org.
University of Florida · USYale University · USBarrow Neurological Institute · USStanford University · USSt. Joseph's Hospital and Medical Center · US

Funding

EXPRESSION OF ION CHANNELS IN THE AUDITORY SYSTEMR01DC001919 · NIDCD · YALE UNIVERSITY · PI KACZMAREK, LEONARD K · 1993 to 2025
$9.7M
Identification of the gene causing spinocerebellar ataxia in a Filipino familyK23NS054715 · NINDS · UNIVERSITY OF FLORIDA · PI WATERS, MICHAEL FARRIS · 2008 to 2012
$851k
NIDCD NIH HHS R01 DC001919NIH HHS NIDCD01919NINDS NIH HHS K23 NS054715
6 · The paper itself

Abstract

Mutations in the potassium channel gene KCNC3 (Kv3.3) cause the autosomal dominant neurological disease, spinocerebellar ataxia 13 (SCA13). In this study, we expand the genotype-phenotype repertoire of SCA13 by describing the novel KCNC3 deletion p.Pro583_Pro585del highlighting the allelic heterogeneity observed in SCA13 patients. We characterize adult-onset, progressive clinical symptoms of two afflicted kindred and introduce the symptom of profound spasticity not previously associated with the SCA13 phenotype. We also present molecular and electrophysiological characterizations of the mutant protein in mammalian cell culture. Mechanistically, the p.Pro583_Pro585del protein showed normal membrane trafficking with an altered electrophysiological profile, including slower inactivation and decreased sensitivity to the inactivation-accelerating effects of the actin depolymerizer latrunculin B. Taken together, our results highlight the clinical importance of the intracellular C-terminal portion of Kv3.3 and its association with ion channel function.

Indexed as

Sequence DeletionAdultAnimalsBridged Bicyclo Compounds, HeterocyclicCHO CellsCricetulusFemaleHumansMaleMarine ToxinsMembrane PotentialsMuscle SpasticityPhenotypeShaw Potassium ChannelsSpinocerebellar AtaxiasThiazolidinesBridged Bicyclo Compounds, HeterocyclicKCNC3 protein, humanlatrunculin BMarine ToxinsShaw Potassium ChannelsThiazolidinesAllelic heterogeneityC-terminal deletionKCNC3SpasticitySpinocerebellar ataxia 13

Identifiers

PMID29949095
PMCPMC8299775
OpenAlexW2808435921

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.