STXBP1-related encephalopathy

Last reviewed

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ORPHA:599373OMIM:612164G93.8
Who is this for?
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6Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Clinical phenotype terms— hover any for plain English:

EEG with focal epileptiform dischargesHP:0011185Dysplastic corpus callosumHP:0006989Atonic seizureHP:0010819Multifocal epileptiform dischargesHP:0010841Epileptic spasmHP:0011097
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Aug 2023STXBP1 and SYNGAP1 Related Disorders Natural History Study

Children's Hospital of Philadelphia

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for STXBP1-related encephalopathy.

View clinical trials →

No actively recruiting trials found for STXBP1-related encephalopathy at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the STXBP1-related encephalopathy community →

Specialists

6 foundView all specialists →
HS
Hannah Stamberger
Specialist
PI on 1 active trial
GB
Ganna Balagura
Specialist
PI on 1 active trial
AS
Andrea Soto-Padilla
Specialist
PI on 1 active trial
IM
Ingo Helbig, MD
PHILADELPHIA, PA
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to STXBP1-related encephalopathy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about STXBP1-related encephalopathy

Disease timeline:

New recruiting trial: STXBP1 and SYNGAP1 Related Disorders Natural History Study

A new clinical trial is recruiting patients for STXBP1-related encephalopathy

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about STXBP1-related encephalopathy

Which specialists treat STXBP1-related encephalopathy?

6 specialists and care centers treating STXBP1-related encephalopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.