Living with Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
A rare genetic epilepsy starting in infancy with seizures that are hard to control and loss of thinking skills.
Understanding Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Seizures start in the mesial temporal lobe of the brain and don't respond well to seizure medicines. They show as unresponsiveness, stiffness, and repeated movements. Thinking skills decline soon after seizures begin, leading to severe intellectual disability and behavior differences.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Seizures that start in infancy
- Unresponsiveness during seizures
- Muscle stiffness during seizures
- Repeated automatic movements (automatisms)
- Loss of thinking skills
- Behavior differences
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 TNK2 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 TNK2 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
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 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression.
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