Living with Isolated lissencephaly type 1 without known genetic defect
A brain development condition from birth in which the brain surface is smooth, causing developmental delay, intellectual disability, and seizures.
Understanding Isolated lissencephaly type 1 without known genetic defect
It belongs to a group called classic lissencephaly. It is diagnosed when there are no other malformations, no family history, and no changes in known lissencephaly genes. People have developmental delay, intellectual disability, and seizures. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Infantile spasms
- Developmental delay
- Intellectual disability
- Feeding difficulties
- Muscle stiffness (spasticity) or low muscle tone
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 changes in genes (also called variants) cause this condition, but no known gene change is found in this type.
Also known as: isolated lissencephaly type 1 without known genetic defects
Patient organizations
- Child Neurology FoundationIsolated lissencephaly type 1 without known genetic defect · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated lissencephaly type 1 without known genetic defect.
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