Excellent work published in American Journal of Medical Genetics by NW paediatric trainees!
Congratulations to Dr Alex Blakes and Dr Joel English! These NW paediatric trainees have recently published their work in the American Journal of Medical Genetics! They describe the case of the first patient with autosomal recessive GRIN1-related neurodevelopment disorder (GRIN1-NDD) caused by a novel homozygous splice acceptor variant. The phenotype of the affected child, which includes early infantile epileptic encephalopathy with intractable seizures, is more severe than that described in individuals with autosomal recessive GRIN1-NDD caused by missense variants.
You can read more about this case and a review of previously published cases of autosomal recessive GRIN1-NDD below:
Well done Alex, Joel and the rest of the teaml! 👏