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GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic

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PubMed
Summary

A genetic variant in the GRIN2D gene caused a severe neurodevelopmental disorder in an infant. This case highlights GRIN2D-related developmental and epileptic encephalopathy (DEE) and its impact on brain function.

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GRIN2Dinfantile epileptic spasmsprecision medicinetreatment resistance

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Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Developmental and epileptic encephalopathies (DEE) are severe neurological disorders often linked to genetic mutations.
  • Glutamatergic neurotransmission, particularly through N-methyl-D-aspartate receptors (NMDAR), is crucial for brain development and function.
  • Mutations in NMDAR subunits are increasingly recognized as a cause of DEE.

Purpose of the Study:

  • To report a case of DEE caused by a de novo GRIN2D gene variant.
  • To contribute to the phenotypic characterization of GRIN2D-related DEE.
  • To emphasize the role of NMDAR function in early-onset epilepsy and developmental delay.

Main Methods:

  • Clinical case presentation of an 11-month-old boy with DEE.
  • Electroencephalography (EEG) for seizure and brain activity monitoring.
  • Whole-exome sequencing (WES) for genetic variant identification.

Main Results:

  • The patient presented with early-onset seizures, developmental delay, and drug-resistant epilepsy.
  • WES revealed a de novo likely pathogenic variant in the GRIN2D gene, affecting a critical transmembrane domain (M3).
  • This is the 14th reported case of GRIN2D-related DEE, expanding the understanding of its clinical spectrum.

Conclusions:

  • GRIN2D gene variants are a significant cause of DEE with a distinct phenotype.
  • The identified M3 domain variant impacts NMDAR function, leading to severe neurological impairment.
  • Further research into GRIN2D-related disorders is essential for improved diagnosis and therapeutic strategies.