Delineating the epilepsy phenotype of NRROS-related microgliopathy: a case report and literature review

With the advent of next-generation sequencing, the genetic landscape of infantile epileptic encephalopathies including infantile spasms syndrome (ISS) is continuously evolving. This landscape is constituted by a wide array of genes, including those regulating transcription, translation, and protein modification; and those involved in angiogenesis, neurogenesis, neuronal differentiation, neuronal migration, signal transduction, and neurotransmission [1]. Most of these genetic disorders are also associated with developmental delay with or without epilepsy-related regression.

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