J Neurol June 2022 PMID 34806130

The complexities of CACNA1A in clinical neurogenetics.

Marina P Hommersom, Teije H van Prooije, Maartje Pennings, Meyke I Schouten, Hans van Bokhoven, Erik-Jan Kamsteeg, Bart P C van de Warrenburg

Mentions

9
Peak: 4 in Feb 2025
across 2 sources since Dec 2021

Extended reach

3,232
potential audience

Total likes

19

Video views

236

Mentions per month

Dec 2021 – Feb 2025

Where it's discussed

  • X / Twitter5 posts
  • YouTube4 videos

AI synopsis

What people are saying

The discussions demonstrate strong interest and moderate engagement through expressions of excitement about the research's implications, such as connecting with authors and presenting findings, which highlight enthusiasm for advancing neurogenetics. Phrases like 'excited to present' and references to collaborative networks exemplify a positive tone and a focus on scientific progress, aligning with the moderate scores for interest and impact.

AgreementModerate agreement

Most discussions acknowledge the challenges and importance of the research, indicating agreement with its significance.

InterestHigh interest

Posts show high curiosity and enthusiasm, especially regarding the gene's complexities and potential collaborations.

EngagementModerate engagement

Discussions include sharing personal connections, mentioning collaborations, and presenting the topic at conferences, reflecting active engagement.

ImpactModerate impact

While recognition of the research's relevance is clear, the overall impact appears to be on advancing understanding and fostering scholarly connections rather than immediate clinical breakthroughs.

Abstract in brief

  • The gene CACNA1A is linked to various neurological conditions like episodic ataxia, migraines, and spinocerebellar ataxia, but its full range of effects is broader and more complex.
  • Current genetic testing often identifies many variants, but only some are clearly pathogenic; many are uncertain or don't fit typical symptom profiles, making diagnosis tricky.
  • Researchers highlight the need for better functional tests to clarify uncertain variants, particularly in patients with atypical or complex neurological symptoms.]

Top posts

Most liked on X and Bluesky
CACNA1A Foundation
@cacna1a · X

Excited to have connected with Marina Hommersom and Bart van de Warrenburg @radboudumc re: their paper "The complexities of CACNA1A in clinical neurogenetics," their #CACNA1A patient cohort, and having them join our CACNA1A collaborative research network https://t.co/iX3r5OHLDr

Jan 25, 2022 · 7 likes · 1 share · 1,619 followers View post →
Marina Hommersom
@marinahommersom · X

Excited to present my recently published paper about the complexities of CACNA1A within clinical neurogenetics. Nice result of the COVID-19 lockdowns (: #cacna1a #neurogenetics https://t.co/OvA0i8sJ1b

Dec 20, 2021 · 7 likes · 45 followers View post →
Einés Monteagudo
@Einesmv · X

The complexities of CACNA1A in clinical neurogenetics "Phenotypic variability and the large number of VUS make CACNA1A a challenging gene for neurogenetic diagnostics." Y que lo digas... https://t.co/21ysZvmIln

May 8, 2023 · 1 like · 1 share · 1,135 followers View post →
Lisa Manaster
@lbhmana · X

RT @cacna1a: Excited to have connected with Marina Hommersom and Bart van de Warrenburg @radboudumc re: their paper "The complexities of CA…

Jan 25, 2022 · 1 share · 162 followers View post →

All mentions

Joey
@Joey_M7858 · X

RT @Einesmv: The complexities of CACNA1A in clinical neurogenetics "Phenotypic variability and the large number of VUS make CACNA1A a chall…

Oct 1, 2023 · 1 share · 29 followers View post →
Einés Monteagudo
@Einesmv · X

The complexities of CACNA1A in clinical neurogenetics "Phenotypic variability and the large number of VUS make CACNA1A a challenging gene for neurogenetic diagnostics." Y que lo digas... https://t.co/21ysZvmIln

May 8, 2023 · 1 like · 1 share · 1,135 followers View post →
Lisa Manaster
@lbhmana · X

RT @cacna1a: Excited to have connected with Marina Hommersom and Bart van de Warrenburg @radboudumc re: their paper "The complexities of CA…

Jan 25, 2022 · 1 share · 162 followers View post →
CACNA1A Foundation
@cacna1a · X

Excited to have connected with Marina Hommersom and Bart van de Warrenburg @radboudumc re: their paper "The complexities of CACNA1A in clinical neurogenetics," their #CACNA1A patient cohort, and having them join our CACNA1A collaborative research network https://t.co/iX3r5OHLDr

Jan 25, 2022 · 7 likes · 1 share · 1,619 followers View post →
Marina Hommersom
@marinahommersom · X

Excited to present my recently published paper about the complexities of CACNA1A within clinical neurogenetics. Nice result of the COVID-19 lockdowns (: #cacna1a #neurogenetics https://t.co/OvA0i8sJ1b

Dec 20, 2021 · 7 likes · 45 followers View post →