Interneuronopathies and their role in early life epilepsies and neurodevelopmental disorders

Anna Maria Katsarou, Solomon L. Moshé, Aristea S. Galanopoulou

Research output: Contribution to journalReview article

Abstract

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
Volume2
Issue number3
DOIs
StatePublished - Sep 1 2017

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Interneurons
Epilepsy
Brain Diseases
Classical Lissencephalies and Subcortical Band Heterotopias
Aminobutyrates
Infantile Spasms
X-Linked Genes
Genitalia
Homeobox Genes
Autistic Disorder
gamma-Aminobutyric Acid
Seizures
Mutation
Neurodevelopmental Disorders
Brain
Genes
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Interneuronopathies and their role in early life epilepsies and neurodevelopmental disorders. / Katsarou, Anna Maria; Moshé, Solomon L.; Galanopoulou, Aristea S.

In: Epilepsia Open, Vol. 2, No. 3, 01.09.2017, p. 284-306.

Research output: Contribution to journalReview article

Katsarou, Anna Maria ; Moshé, Solomon L. ; Galanopoulou, Aristea S. / Interneuronopathies and their role in early life epilepsies and neurodevelopmental disorders. In: Epilepsia Open. 2017 ; Vol. 2, No. 3. pp. 284-306.
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