Living with Lissencephaly due to TUBA1A mutation
A brain development condition from a TUBA1A gene change, with a wide range from severe epilepsy to major brain differences before birth.
Understanding Lissencephaly due to TUBA1A mutation
It affects the brain's outer layer, hippocampus, corpus callosum, cerebellum, and brainstem. There is a wide range. Some children have severe epilepsy and intellectual and motor delays, while others have severe brain differences noticed during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Smooth brain surface (lissencephaly)
- Missing corpus callosum
- Small cerebellum
- Crossed eyes (strabismus)
- Differences in the hippocampus and basal ganglia
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 TUBA1A 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 Child Neurology Foundation and other patient organizations
- 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
It is caused by changes in the TUBA1A gene. It is listed as autosomal dominant, which means one changed copy of the gene is enough.
Also known as: lis3; lissencephaly 3; lissencephaly due to tuba1a (tubulin alpha 1a) mutation; lissencephaly due to tubulin alpha 1a mutation
Patient organizations
- Child Neurology FoundationLissencephaly due to TUBA1A mutation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly due to TUBA1A mutation.
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