Both the clinical diagnoses and genetics of Lissencephaly are broad and complex. The links that follow give an insight into how complex a subject this is. Warning – most of this is technical – have a look at the Glossary for explanation of terms used.
- A list of Malformations of Cortical Development showing the large number of different conditions that can arise.
- Cephalic Disorders – all those disorders with names ending in ‘cephaly’.
- GeneClinics – a Lissencephaly and Subcortical Band Heterotopia (Agyria-Pachygyria-Band Spectrum) Overview by Dr Dobyns (includes polymicrogyria)
- The Lissencephaly Network’s Genetics Page with recurrence rates for different types.
- The Lissencephaly Network’s Lissencephaly Grades and Genetics.
- The Development of the Cerebral Cortex, a short paper on neuronal migration in Lissencephaly.
- Chromosomes made easy – a really good, simple explanation of genetics.
- Lissencephaly – brief overview from NINDS.
- KUMC – contact information.
- SpecialChild article on Lissencephaly.
- New brain development protein discovered
- Thesis on brain development mechanisms
Isolated Lissencephaly Sequence (ILS) and Miller-Dieker Syndrome (MDS)
- A press release from the American Neurological Association on testing for hereditary variants of Lissencephaly.
- Three genes & their effects on radial neural cell migration in the cerebral cortex.
Chromosome 17 abnormalities
- Miller-Dieker Syndrome – the history of MDS from the OMIM.
- An image from a FISH test showing a translocation in Miller-Dieker Syndrome.
- LIS1 gene – technical details of the gene at the heart of ILS17 and MDS (click the Display button).
- Platelet Activating Factor, PAF – a subunit of the LIS1 gene from the OMIM.
- PAFAH1B1 Mutations that cause ILS/MDS (from Chromosome 17).
- LIS1 gene information.
- Observed abnormalities when the end of the short arm (‘p’ arm) of chromosome 17 is deleted.
Double Cortex & Subcortical Band Heterotopia – X Chromosome abnormalities
Lissencephaly with Cerebellar Hypoplasia (LCH)
- New naming system to distinguish the subtle types of LCH
Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain (MEB) Disease
Check the Geneclinics link in the Genetics and Clinical section
- FCMD Gene mutations that cause Fukuyama Congenital Muscular Dystrophy (from Chromosome 9).
- Fukuyama Congenital Muscular Dystrophy (FCMD) – findings from Japan.
- LIS2 gene – a pseudogene (not proven to cause Lissencephaly).
- Type III Lissencephaly – brief overview.
- Norman-Roberts Syndrome (Microlissencephaly with thick cortex).
- Patient Information Sheet on Schizencephaly