Living with Familial infantile myoclonic epilepsy
A rare genetic epilepsy that starts in newborns or infants and runs in families, with seizures and sometimes speech and balance problems.
Understanding Familial infantile myoclonic epilepsy
Seizures involve sudden jerks (myoclonic) and focal seizures, and occur in several members of a family. Some people also have mild slurred speech, balance problems (ataxia), or intellectual disability from borderline to moderate.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Sudden muscle jerks (myoclonic seizures)
- Seizures in one half of the brain (focal)
- Whole-body seizures (tonic-clonic)
- Seizures with fever (febrile)
- Slurred speech (dysarthria)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TBC1D24 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TBC1D24 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: epilepsy, myoclonic, infantile; familial infantile myoclonus epilepsy; fime; fime - familial infantile myoclonic epilepsy; myoclonic epilepsy, infantile, familial
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial infantile myoclonic epilepsy.
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