CACNA1A Portal v1.1 (last updated 1st July 2024)
Welcome to the interactive website for families, clinicians, and researchers dedicated to comprehending CACNA1A-related disorders
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Latest news for the community
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Visit also our other Gene Portals!
What is new in version 1.1?
- The general appearance was updated.
- Variant analysis shows an ACMG criteria-based variant classification.
- Variant analysis now allows ACMG criteria customization.
- A report can now be downloaded in the Variant analysis tab.
History of CACNA1A research
Strupp et al.
Stam et al.
Du et al.
Hidalgo et al.
CACNA1A-related disorders
Pathogenic variants (mutations) in the CACNA1A gene cause a range of neurological and developmental disorders, including epilepsy (mild to severe), episodic ataxia (periods of unsteadiness and poor balance), hemiplegic migraines (a rare and severe type of migraine that involves weakness or paralysis on one side of the body), atypical eye movements, developmental delays, and autism spectrum disorder. The symptoms a child experiences and the severity of the disorder can vary widely and depend on the particular CACNA1A variant the child has.
Clinical summary of our registry
What are CACNA1A-related disorders?
This 6-minute video on CACNA1A helps families learn about these disorders in plain language. You’ll learn:
- Scientific terms (such as genes, proteins, and variants/mutations) that will help you understand CACNA1A-related disorders
- What causes CACNA1A-related disorders
- How CACNA1A-related disorders are diagnosed
- The symptoms of CACNA1A-related disorders
- Where to find support
Timestamps:
0:00-2:05 GENETICS & GENES
02:06-6:36 WHAT ARE CACNA1A-RELATED DISORDERS
How to analyse your variant
Coming soon
Portal version 1.1
The CACNA1A Portal is a coalition of investigators seeking to aggregate and harmonize data generated to study CACNA1A-related disorders, and to make summary data interactively accessible for the wider scientific community, while providing educational resources for everyone. The goals of this project are:
- Providing information on CACNA1A-related disorders
- Supporting research on CACNA1A-related disorders
- Facilitating recruitment of individuals to the global CACNA1A registries
- Providing support in variant interpretation and classification
- Visualizing data from the global CACNA1A registries
- Linking researchers, clinicians and families
Steering Group
Lisa Manaster (CACNA1A Foundation, Norwalk, CT, USA)
Sunitha Malepati (CACNA1A Foundation Mclean, VA, USA)
Pangkong Fox (CACNA1A Foundation, Trevor, WI, USA)
Jeffrey Noebels, MD, PhD (Baylor College of Medicine, Houston, TX, USA)
Team Leaders
Annapurna Poduri, MD, MPH (Boston Children’s Hospital, Boston, MA, USA): Clinical & Genetic data
Wendy Chung, MD, PhD (Boston Children’s Hospital, Boston, MA, USA): Clinical & Genetic data
Ingo Helbig, MD (Children’s Hospital of Philadelphia, Philadelphia, PA, USA): Clinical & Genetic data
Jen Q. Pan, PhD (Boston Children’s Hospital, Boston, MA, USA): Molecular data
Alfred L. George Jr., MD (Children’s Hospital of Philadelphia, Philadelphia, PA, USA): Molecular data
Dennis Lal, PhD (UTHealth Houston, Houston, TX, USA): General concept, Web development, Bioinformatics, Video production
Clinical & Genetic Data
Laina Lusk, MMSc, LCGC
(Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
Sarah M. Ruggiero, MS, LCGC
(Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
Stacey Cohen, MS, LCGC
(Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
Lacey Smith MS, CGC
(Boston Children's Hospital, Boston, MA, USA)
Anne Ducros, MD, PhD
(University of Montpellier, Montpellier, France)
Sylvia Boesch,MD, MSc
(Medical University of Innsbruck, Innsbruck, Austria)
Clinical & Genetic Data
Kristin Baranano, MD, PhD
(Johns Hopkins Medicine, Baltimore, MD, USA)
Elisabetta Indelicato, MD, PhD
(Medical University of Innsbruck, Innsbruck, Austria)
Olivia J. Wilmarth
(Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
Julia Koh, BS
(Boston Children’s Hospital, Boston, MA, USA)
Esther Cha
Northwestern University (Chicago, IL, USA)
Nikita Budnik
Molecular Data
Sooyeon Jo
Marina Hommersom, PhD
(Radboud University Medical Centre, Nijmegen, Netherlands)
Audra Kramer, PhD
(University of Maryland School of Medicine, Baltimore, MA, USA)
Carlos Vanoye, PhD
(Northwestern Medicine, Chicago, IL, USA)
Web Development
Arthur Stefanski
Tobias Brünger
(University of Cologne, Germany)
Arthur Stefanski
(Cleveland Clinic, Ohio, USA)
Eduardo Pérez-Palma PhD
(Universidad del Desarrollo, Chile)
Marie Macnee
(University of Cologne, Germany)
Chiara Klöckner MD
(University of Leipzig Medical Center, Germany)
Bioinformatics
Tobias Brünger
(University of Cologne, Germany)
Eduardo Pérez-Palma PhD
(Universidad del Desarrollo, Chile)
Marie Mcnee
(University of Cologne, Germany)
Patrick May PhD
(University of Luxembourg, Luxembourg)
Chiara Klöckner MD
(University of Leipzig Medical Center, Germany)
Johannes Lemke MD
(University of Leipzig Medical Center, Germany)
Video
Arthur Stefanski
Arthur Stefanski
(Cleveland Clinic, Ohio, USA)
Joshua Jiang
(Cleveland Clinic, Ohio, USA)
Alina Ivaniuk
(Cleveland Clinic, Ohio, USA)
Jeffrey Noebels, MD, PhD
(Baylor College of Medicine, Houston, TX, USA
Lisa Manaster
(CACNA1A Foundation, Norwalk, CT, USA)
Acknowledgment
This project is supported with research funds from the CACNA1A Foundation.
Imprint
We object to any commercial use and disclosure of data.
Copyright and use: The authors grants you the right of use to make a private copy for personal purposes. However, you are not entitled to change and/or pass on the materials or publish them yourself. Upon request, you will receive free information about the personal data stored about you. To do so, please contact the administrator.
No liability: The contents of this web project have been carefully checked and created to the best of our knowledge. However, the curation and incorporation of the data presented here is an ongoing process and may not be complete or accurate. No responsibility can be accepted for any damage caused by reliance on or use of the contents of this website.
Terms of Use
All data presented here are publicly available for the benefit of the wider biomedical community. You can freely explore the data, and we encourage the use and publication of results generated from these data. However, we encourage you to contact us before embarking on analyses to check if your proposed analysis overlaps with work currently underway by our team. Further, we request that you actively acknowledge and give attribution to the CACNA1A Portal project, and link back to the relevant page, wherever possible. All users of our data agree to not attempt to reidentify participants. Our data set has been subjected to extensive quality control, but may be imperfect so errors may remain. If you spot any results that seem impossible, or have suggestions for CACNA1A Portal improvements:
Contact us that we can improve.Data Generation
Data has been curated in a community effort.
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