Back Donate
Donate
Default image for pages

Title: Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review. Epileptic Disord. 2025 May 14.

A team of Italian researchers published results from an AHC study on status epilepticus. The report aims to illustrate a comprehensive treatment approach and clinical management of an AHC patient with multiple episodes of super-refractory status epilepticus throughout his lifetime. The paper concludes that a multidisciplinary approach, proactive management, regular monitoring, and personalized interventions are crucial in both acute and post-acute phases to improve outcomes. The presence of a caregiver during care helps prevent emotional triggers, potentially averting nonepileptic events and therefore epileptic seizures, and assists healthcare professionals in understanding patients’ needs and providing care.

Title: Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice. Neurobiol Dis. 2025 May 15

The paper reports on how the mouse data reveals the presence but also the differential impact of the p.D801N and p.E815K variants on disease in AHC.  Relevant alterations such as spontaneous and stress-induced paroxysmal episodes, motor function, behavioral and neurophysiological activity, and neuroinflammation are identified. We are so thankful to everyone who worked on this important and complex study.  It will be of great use to the AHC community for years to come. Be sure to check out the full text of the paper on the web.

Link: https://www.sciencedirect.com/science/article/pii/S0969996125001706?via%3Dihub

A major international study has just been published, exploring how ATP1A3 variants affect heart function in people with AHC. The multi-center case-control study spanned 12 centers across 10 countries, analyzing 148 individuals with AHC and 74 controls. The  key finding: nearly 70% of individuals with the D801N variant had short QT intervals—a condition linked to ventricular arrhythmias and cardiac arrest. To learn more about what what this means for the AHC community, join us at the AHCF Family Meeting in June. Dr. Landstrom will present these groundbreaking findings.
Big news: our online store is LIVE — and it’s packed with bold designs and powerful messages for the AHC community! 🎉 Help us spread the word by shopping, sharing, and spreading awareness for the community that never gives up! Shop today.

 

Early Bird Registration Ends April 30th!
Don’t miss your chance to join the rare disease community at a lower rate!
This is more than a conference—it’s where families, advocates, and researchers come together to share hope, knowledge, and connection.
💙 Be there. Be informed. Be inspired.
Secure your spot before prices go up!

Share the June AHCF Family Meeting on social media. Win prizes. Check out the details!

Join this fun contest to help us all connect in our mission to find a cure. Whether you’re a parent, advocate, researcher, or ally—your voice matters. Together, we can connect for a cure. Tag a friend. Repost this. Use #ConnectforaCure.
The Connect for a Cure Challenge ends May 16th- don’t miss your chance to join! Let’s show the world that rare is powerful—and we are stronger together. 💙
Learn more about the family meeting here. When: June 19-21, 2025. Where: Cincinnati, Ohio area.

🌟 Couple the Family Meeting with an unforgettable vacation with Family Fun in Cincinnati: A Perfect Getaway! 🌟

Looking for the perfect family vacation? Cincinnati is a hidden gem packed with unforgettable experiences for kids and parents alike! 🎡🏙️

🏛 Explore & Learn – From hands-on exhibits at the Cincinnati Museum Center to the wonders of the Newport Aquarium, every day is an adventure! 🐠🔬

🌳 Outdoor Fun – Take in the stunning riverfront at Smale Park, ride the Carol Ann’s Carousel, or watch the world go by on a BB Riverboat Cruise. 🚢🌞

🍔 Kid-Approved Eats – Enjoy local favorites like Skyline Chili or grab a sweet treat at Graeter’s Ice Cream! 🍦

⚾ Sports & Entertainment – Catch a Reds game, cheer on FC Cincinnati, or explore the city’s vibrant arts scene. 🎭⚽

No matter what your family loves, Cincinnati is full of adventure, discovery, and joy! ✨ Have you taken a family trip here? Tell us your favorite Cincinnati memories! ⬇️

www.ahckids.org
#AHCFamilyMeeting #KidFriendlyCincinnati #ExploreOhio

See less

General Family Newsletter – Get Involved & Make an Impact! 💙

Our latest Family Newsletter is here! In this edition, we’re sharing family support resources, new doctors, helpful guides, and an important call to action: We need YOU to help fundraise!

Every effort—big or small—helps drive research, support families, and bring us closer to better treatments. Start your fundraiser today and make a difference!

🔗 https://conta.cc/41C4HWO

Dear Friends and Families of the AHC Patient Community:

We want to update you on some exciting news related to our gene editing project.

(more…)

“The 11th ATP1A3 in Disease Symposium was held in Chicago on October 27-28, 2023, at the Northwestern University Feinberg School of Medicine. The four U.S. foundations jointly hosted the conference (Alternating Hemiplegia of Childhood Foundation, Cure AHC, Hope for Annabel, and For Henry AHC). Additional support for the conference came from the AHC foundations of the United Kingdom, Spain, Germany, and Canada. The Northwestern University Department of Pharmacology provided local support for the conference. The meeting attracted 115 attendees from 14 countries and was presented in person and through a virtual platform.

The theme for the conference, Taking the Next Steps, was intended to encourage speakers and attendees to think about the future. The conference program consisted of four scientific sessions:

  • Disease Natural History

  • Basic Mechanisms / Neurophysiology

  • Therapeutic Advances

  • Quantifying Phenotypes & Clinical Trial Readiness and a poster session.

Attendees were engaged and enthusiastic and left feeling immense progress in the field.

Read the full summary of this meeting from Dr. George and other symposium summaries here.

Read more about the ATP1A3 Symposium

The 12th Symposium will be held in Barcelona, Spain November 14-15, 2024.