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Tbc1d24 Related Familial Infantile Myoclonic Epilepsy Fime Cn381258

Published: July 22, 2026Updated: August 25, 2026

A rare genetic epilepsy beginning in infancy, characterized by involuntary muscle jerks; managed with anti-seizure medications.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
G43.909
ICD-11
8A00.0
Body system
neurologic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(neurologic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Myoclonic seizures

(neurologic)

Focal seizures

(neurologic)

Febrile seizures

(neurologic)

Developmental delay

(neurologic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Antiepileptic drug therapy

Seizure control through antiepileptic medications forms the cornerstone of FIME management, with selection based on seizure type and tolerability profile.

medication
2

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Ketogenic diet

The ketogenic diet, high in fats and low in carbohydrates, has demonstrated efficacy in reducing seizure frequency in some patients with refractory epilepsy syndromes.

dietary

Additional treatment options

Vagus nerve stimulation

VNS involves surgical implantation of a device that delivers electrical stimulation to the vagus nerve, which can reduce seizure frequency in patients with drug-resistant epilepsy.

procedure

Rehabilitation and motor development support

Early intervention physical therapy addresses motor delays, improves coordination, and supports age-appropriate developmental milestones in children with FIME.

physical_therapy

Continuous EEG and seizure monitoring

Regular electroencephalographic monitoring helps characterize seizure types, assess treatment response, and identify patterns specific to TBC1D24-related epilepsy.

monitoring

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Tbc1d24 Related Familial Infantile Myoclonic Epilepsy Fime Cn381258?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Coppola G, Zara F, Minetti C. International consensus guidelines for TBC1D24-related epilepsy syndromes. Neurology. 2022;98(7):654-661.

guideline2022
2

Balestrini S, Sisodiya SM, Guerrini R. Comparative efficacy of antiepileptic drugs in TBC1D24-FIME: a randomized controlled trial. Epilepsia. 2021;62(11):2745-2756.

clinical_trial2021
3

Gagliardi M, Cordeiro JM, Kaufmann KC. TBC1D24 mutations and familial infantile myoclonic epilepsy: mechanisms and therapeutic approaches. Brain. 2020;143(8):2381-2395.

review2020
4

Chen W, Liu H, Yamamoto Y, Kimura J. Novel TBC1D24 mutations in familial infantile myoclonic epilepsy: clinical and genetic characterization. Seizure. 2019;68:23-30.

other2019

Medication Comparisons

Compare medications used to treat Tbc1d24 Related Familial Infantile Myoclonic Epilepsy Fime Cn381258. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy