TSC used to mean progressive tumors + uncontrolled seizures.

Now we have:
Everolimus
Sirolimus
Vigabatrin

Targeted therapy + seizure control = a new management era.

Curious how mTOR dysregulation drives all of this?

#TuberousSclerosis #RareDisease #Neurology #Pharma

Our findings suggest that ABI-009 is safe and tolerable in pediatric patients with surgically and medically refractory epilepsy at a dose of 20 mg/m2.
doi.org/10.1111/epi....

#epilepsy #epilepsia #ILAE #epilepsysurgery #malformationcorticaldevelopment #mTOR #tuberoussclerosis

It's TSC Awareness Month, and I'm raising money for a cure for my daughter!

To hear her story, check out my recent interview for the Inclusion starts now podcast: tinyurl.com/tscinclusion

Please donate to our cause here: give.tscalliance.org/team/634369

#raredisease #Step4TSC #tuberoussclerosis

Nested Case-Control Study of Intervention in Early Infancy to Prevent #TuberousSclerosis Complex–Associated Renal #Angiomyolipoma

#VisualAbstract by @thana_susan

www.kireports.org/ar...

I don't want to list all my illnesses every time I meet someone new. A little understanding is all that is needed. #tuberoussclerosis

Cenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex Epilepsy is prevalent, and seizure control is challenging in patients with tuberous sclerosis complex (TSC). Cenobamate (CBM) has proven efficacy in several studies; however, its benefit in the TSC po...

In honor of the upcoming American Epilepsy Society Meeting #AES, here are some epilepsy studies:

In #TuberousSclerosis,
— Cenobamate ⬇️ seizures
shorturl.at/n2xmL

— But Everolimus levels decrease w/ cenobamate, so monitor mTOR inhibitors levels
shorturl.at/eYP7c

⚡️ 🧠

Tuberous sclerosis (TSC) is a rare genetic disorder that can cause a range of disabilities, including:
- Learning disabilities
- Neurodevelopmental conditions
- Seizures
- Brain tumours
- Heart tumoirs
Find out more...and Donate...at tsc.org.nz
#tuberoussclerosis #internationaldayofdisability