Orphanet: Nodular neuronal heterotopia
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Nodular neuronal heterotopia

Disease definition

A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.

ORPHA:2149

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: All ages
  • ICD-10: Q04.8
  • OMIM: 300049  608097  608098  612881  615544  617201
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2022) Nederlands (2022)

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