Interneuronopathies and their role in early life epilepsies and neurodevelopmental disorders

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40 Scopus citations


GABAergic interneurons control the neural circuitry and network activity in the brain. The advances in genetics have identified genes that control the development, maturation, and integration of GABAergic interneurons and implicate them in the pathogenesis of epileptic encephalopathies and neurodevelopmental disorders. For example, mutations of the aristaless-related homeobox X-linked gene (ARX) may result in defective GABAergic interneuronal migration in infants with epileptic encephalopathies like West syndrome (WS), Ohtahara syndrome, or X-linked lissencephaly with abnormal genitalia (XLAG). The concept of “interneuronopathy,” that is, impaired development, migration, or function of interneurons, has emerged as a possible etiopathogenic mechanism for epileptic encephalopathies. Treatments that enhance γ-aminobutyric acid (GABA) levels may help seizure control but do not necessarily show disease modifying effect. On the other hand, interneuronopathies can be seen in other conditions in which epilepsy may not be the primary manifestation, such as autism. In this review, we plan to outline briefly the current state of knowledge on the origin, development, and migration and integration of GABAergic interneurons, present neurodevelopmental conditions, with or without epilepsy, that have been associated with interneuronopathies, and discuss the evidence linking certain types of interneuronal dysfunction with epilepsy and/or cognitive or behavioral deficits.

Original languageEnglish (US)
Pages (from-to)284-306
Number of pages23
JournalEpilepsia Open
Issue number3
StatePublished - Sep 1 2017


  • Autism
  • Dravet syndrome
  • GABA
  • Interneuronopathy
  • Lissencephaly
  • Schizophrenia
  • West syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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