Neurodevelopmental disorder with or without hyperkinetic movements and seizures: a rare genetic case

Case presentation: Patient RSP, female, born full-term and without complications during pregnancy or perinatally. She presented her first episode of tonic-clonic at 5 months age, evolving with recurrent seizures variable frequency intensity, neuropsychomotor development (NPMD), tremors in the upper limbs precocious puberty. Brain MRI diffuse leukoencephalopathy associated volumetric reduction. Electroencephalogram (EEG) multifocal epileptic activity disorganized baseline rhythm. Genetic Panel Epilepsies collected 2021 showed pathogenic variant heterozygosity GRIN1 gene, Neurodevelopmental Disorder Hyperkinetic Movements Seizures (NDHMSD, OMIM: # 614254).