Living with Classic lissencephaly
A rare brain development condition where the surface of the brain is unusually smooth.
Understanding Classic lissencephaly
It belongs to a group of conditions linked to changes in the PAFAH1B1 gene, including Miller-Dieker syndrome, isolated lissencephaly sequence, and less commonly subcortical band heterotopia. In lissencephaly, the brain surface has no normal folds (agyria) or very broad, shallow folds (pachygyria). Isolated lissencephaly sequence involves developmental delay, intellectual disability, and seizures.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes:
- Developmental delay
- Intellectual disability
- Seizures
- Smooth brain surface on imaging
- Severe nervous system problems (Miller-Dieker)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says it is linked to changes in the PAFAH1B1 gene.
Also known as: 4-layered lissencephaly; four-layered lissencephaly; lissencephaly type 1; lissencephaly, type i; type 1 lissencephaly; type i lissencephaly
Patient organizations
- Child Neurology FoundationClassic lissencephaly · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Classic lissencephaly.
Explore research for Classic lissencephaly
Explore actively recruiting Classic lissencephaly studies with HealthSpark.
Find actively recruiting studies for Classic lissencephaly with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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