Living with Lissencephaly due to LIS1 mutation
A brain development condition with a smooth brain surface, developmental delay, and seizures, caused by a LIS1 gene change.
Understanding Lissencephaly due to LIS1 mutation
It is mainly at the back of the brain. It comes with developmental delay and intellectual disability. Epilepsy usually changes from West syndrome to Lennox-Gastaut syndrome. Other features are low muscle tone, a small head that grows slowly, and poor weight gain. Poor airway control can lead to aspiration pneumonia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smooth brain surface (agyria and pachygyria)
- Severe intellectual disability
- Seizures
- Delayed sitting
- Low muscle tone (hypotonia)
- Small head (microcephaly)
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 PAFAH1B1 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 PAFAH1B1 (LIS1) gene. It is listed as autosomal dominant, which means one changed copy of the gene is enough.
Also known as: isolated lissencephaly sequence; lis1; pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly; pafah1b1-related lissencephaly
Patient organizations
- Child Neurology FoundationLissencephaly due to LIS1 mutation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly due to LIS1 mutation.
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