Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain

Hum Genet. 2009 Jul;126(1):173-93. doi: 10.1007/s00439-009-0702-1. Epub 2009 Jun 18.

Abstract

Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes' important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • ADAM Proteins / genetics
  • ADAMTS4 Protein
  • Brain / anatomy & histology*
  • Cathepsin B / genetics
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / diagnostic imaging
  • Cerebral Cortex / growth & development
  • Child, Preschool
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 3
  • Classical Lissencephalies and Subcortical Band Heterotopias / complications
  • Classical Lissencephalies and Subcortical Band Heterotopias / diagnostic imaging
  • Classical Lissencephalies and Subcortical Band Heterotopias / physiopathology
  • Collagen Type XVIII
  • Epilepsy / etiology*
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Eye Proteins / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Lissencephaly / complications
  • Lissencephaly / diagnostic imaging
  • Lissencephaly / physiopathology
  • Male
  • Malformations of Cortical Development* / complications
  • Malformations of Cortical Development* / diagnostic imaging
  • Malformations of Cortical Development* / physiopathology
  • Mutation
  • Nerve Tissue Proteins / genetics
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Periventricular Nodular Heterotopia / complications
  • Periventricular Nodular Heterotopia / diagnostic imaging
  • Periventricular Nodular Heterotopia / physiopathology
  • Procollagen N-Endopeptidase / genetics
  • Radiography
  • Receptors, G-Protein-Coupled / genetics
  • Repressor Proteins / genetics
  • T-Box Domain Proteins / genetics
  • Transcription Factors / genetics

Substances

  • ADGRG1 protein, human
  • ARX protein, human
  • Collagen Type XVIII
  • EOMES protein, human
  • Eye Proteins
  • Homeodomain Proteins
  • KIAA1279 protein, human
  • Nerve Tissue Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Receptors, G-Protein-Coupled
  • Repressor Proteins
  • SRPX2 protein, human
  • T-Box Domain Proteins
  • Transcription Factors
  • empty spiracles homeobox proteins
  • Cathepsin B
  • ADAM Proteins
  • Procollagen N-Endopeptidase
  • ADAMTS4 Protein