Genetic epilepsy with febrile seizure plus

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ORPHA:36387OMIM:614418G40.3
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11Specialists8Treatment centers1Financial resources

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

Genetic Epilepsy with Febrile Seizures Plus, often called GEFS+ (sometimes written as GEFSP), is an inherited condition that affects how the brain handles electrical signals. In most people, febrile seizures — seizures triggered by a high fever — stop happening after early childhood. In GEFS+, seizures can continue beyond age 6, happen without fever, or take on different forms throughout a person's life. The condition sits on a wide spectrum: some family members may have only mild, occasional febrile seizures, while others in the same family may have more frequent or harder-to-control seizures. The most common seizure types in GEFS+ include febrile seizures that last longer than usual, seizures that happen without fever, absence seizures (brief staring spells), and in some cases a more severe form called Dravet syndrome. The brain itself usually looks normal on MRI scans, and many people with GEFS+ have normal intelligence. Treatment focuses on controlling seizures with anti-seizure medications. Many people respond well to standard medications, though some need more complex treatment plans. The condition is lifelong, but for most people the seizures become less frequent or easier to manage as they get older. Early diagnosis and the right medication choices can make a big difference in quality of life.

Also known as:

Key symptoms:

Febrile seizures that continue past age 6Seizures that happen without a feverBrief staring spells (absence seizures)Convulsions with shaking of the arms and legsSeizures that last longer than typical febrile seizuresMuscle jerking or twitching (myoclonic seizures)Sudden loss of muscle tone causing falls (atonic seizures)Difficulty with balance or coordination in some casesLearning or attention difficulties in more severely affected individualsBehavioral challenges in some children

Clinical phenotype terms (28)— hover any for plain English
Generalized non-motor (absence) seizureHP:0002121Cortical dysplasiaHP:0002539Generalized cerebral atrophy/hypoplasiaHP:0007058Atonic seizureHP:0010819EEG with spike-wave complexesHP:0010850Atypical absence status epilepticusHP:0011151
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Genetic epilepsy with febrile seizure plus.

View clinical trials →

No actively recruiting trials found for Genetic epilepsy with febrile seizure plus at this time.

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Specialists

11 foundView all specialists →
NB
Naglaa Fathy Berseem
Specialist
1 Genetic epilepsy with febrile seizure plus publication
EK
Essam Shawky A E H Khattab
Specialist
1 Genetic epilepsy with febrile seizure plus publication
DS
Dalia S Saad
Specialist
1 Genetic epilepsy with febrile seizure plus publication
SE
Sameh A Abd Elnaby
Specialist
1 Genetic epilepsy with febrile seizure plus publication
MR
Mohan Rajeshwari
Specialist
1 Genetic epilepsy with febrile seizure plus publication
MN
Madhurima Nandy
Specialist
1 Genetic epilepsy with febrile seizure plus publication
SG
Santhalingam Gayathri
Specialist
1 Genetic epilepsy with febrile seizure plus publication
TR
Thangadurai Rahul
Specialist
1 Genetic epilepsy with febrile seizure plus publication
VG
Vykuntaraju K Gowda
Specialist
1 Genetic epilepsy with febrile seizure plus publication
PV
Perumal Varalakshmi
Specialist
1 Genetic epilepsy with febrile seizure plus publication
BA
Balasubramaniem Ashokkumar
Specialist
1 Genetic epilepsy with febrile seizure plus publication

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

Financial Resources

1 resources

NAYZILAM

UCB, Inc.

NAYZILAM Patient Support (UCB Patient Assistance)

Patient Assistance
Manufacturer Program
Accepting applications

Travel Grants

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Community

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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.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene is causing GEFS+ in our family, and does it change which medications are safe to use?,Should other family members be tested for the same gene change?,What is our seizure action plan, and when exactly should we use the rescue medication?,Are there any medications or triggers we should specifically avoid?,What signs would tell you that the current treatment is not working well enough?,Will my child's seizures likely improve as they get older?,Are there any clinical trials or new treatments we should know about?

Common questions about Genetic epilepsy with febrile seizure plus

What is Genetic epilepsy with febrile seizure plus?

Genetic Epilepsy with Febrile Seizures Plus, often called GEFS+ (sometimes written as GEFSP), is an inherited condition that affects how the brain handles electrical signals. In most people, febrile seizures — seizures triggered by a high fever — stop happening after early childhood. In GEFS+, seizures can continue beyond age 6, happen without fever, or take on different forms throughout a person's life. The condition sits on a wide spectrum: some family members may have only mild, occasional febrile seizures, while others in the same family may have more frequent or harder-to-control seizures

How is Genetic epilepsy with febrile seizure plus inherited?

Genetic epilepsy with febrile seizure plus follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Genetic epilepsy with febrile seizure plus typically begin?

Typical onset of Genetic epilepsy with febrile seizure plus is infantile. Age of onset can vary across affected individuals.

Which specialists treat Genetic epilepsy with febrile seizure plus?

11 specialists and care centers treating Genetic epilepsy with febrile seizure plus are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Genetic epilepsy with febrile seizure plus?

1 patient support program are currently tracked on UniteRare for Genetic epilepsy with febrile seizure plus. See the treatments and support programs sections for copay assistance, eligibility, and contact details.