Epilepsies Associated with Malformations of Cortical Development and Inborn Errors of Metabolism

  • Nadia Bahi-Buisson
Reference work entry

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. Three important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs), epilepsies associated with some metabolics disorders and epilepsies associated with a structurally normal brain (or with minimal abnormalities only, also called “idiopathic” epilepsies).

Epilepsies Associated with Malformations of Cortical Development

Epilepsy is often present in patients with malformations of cortical development (MCDs) and tends to be severe, although its incidence and type vary in different malformations. It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating...


Infantile Spasm Biotinidase Deficiency Cortical Malformation Periventricular Nodular Heterotopia GAMT Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Authors and Affiliations

  • Nadia Bahi-Buisson
    • 1
  1. 1.Department of PediatricsHopital Necker Enfants MaladesParisFrance

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