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Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Renzo Guerrini1, Romeo Carrozzo
1Neurosciences Unit, Great Ormond Street Hospital for Sick Children and Institute of Child Health, University College London, Wolfson Centre, Mecklenburgh Square, London WC1N 2AP, UK. R.Guerrini@ich.ucl.ac.uk
Seizure
|August 21, 2002
Summary
Genetic mutations in cerebral cortical malformations are linked to epilepsy. This review details lissencephaly, heterotopia, tuberous sclerosis, schizencephaly, and polymicrogyria, offering genetic testing guidance.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Cerebral cortical malformations are frequently observed in epilepsy patients.
- Understanding the genetic basis of these malformations is crucial for diagnosis and counseling.
- Several malformations, including lissencephaly, heterotopia, and tuberous sclerosis, have identified genetic links.
Purpose of the Study:
- To review cerebral cortical malformations associated with epilepsy.
- To elucidate or highlight suspected genetic bases for these conditions.
- To provide guidance on genetic testing for affected individuals.
Main Methods:
- Literature review of epilepsy patients with cerebral cortical malformations.
- Analysis of genetic mutations associated with specific malformations.
- Correlation of imaging features with genetic findings.
Main Results:
- Three forms of lissencephaly are linked to LIS1 and XLIS (DCX) gene mutations.
- Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with reelin gene mutations.
- X-linked bilateral periventricular nodular heterotopia (BPNH) and tuberous sclerosis (TS) have identified gene mutations (FLNA, TSC1, TSC2).
- Schizencephaly and polymicrogyria show genetic heterogeneity and potential links to chromosomal abnormalities (e.g., 22q11.2 deletion).
Conclusions:
- Genetic testing is indicated for specific cerebral cortical malformations presenting with epilepsy.
- Identifying gene mutations aids in understanding disease mechanisms and provides prognostic information.
- Further research is needed for malformations like schizencephaly and some forms of BPNH with unclear inheritance patterns.