- Case Report
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene
- Alfonso Rubino,
- Giorgia Bruno,
- Gabriella Errichiello,
- Fabio Acquaviva,
- Daniele De Brasi,
- Alfonsina Tirozzi,
- Pia Santangelo,
- Carmela Russo,
- Antonio Varone and
- Geremia Zito Marinosci
- + 1 author
Background: The GRIA3 gene encodes the GluA3 subunit of AMPA-type glutamate receptors, which are crucial for excitatory neurotransmission in the central nervous system. Pathogenic GRIA3 variants cause X-linked neurodevelopmental disorders of varying...

