OBJECTIVE: To determine the metabolic and genetic causes among infants presenting with neonatal-onset epilepsy in single center study over a period of 22 years (2000-2023). METHODS: we retrospectively reviewed the medical records of 55 patients admitted to KFMMC, Dhahran, Saudi Arabia with different types of neonatal epilepsy . Metabolic screening for inborn error of metabolism and neurotransmitter disorders. In all patients MRI brain was performed (some of them MRI spectroscopy added).The genetic testing is done at ( Bioscientia, Germany). The types of genetic testing requested are; either karyotype, FISH, CGH array, NGS gene panel, or whole exome sequencing (WES). WES interpenetrated as pathogenic, likely pathogenic or VUS RERULTS: 55 neonates found to have genetic and metabolic causes of their epilepsy. KCNQ2 (n=7), SLC13A59 (n=3), STXBP1, SCN2A, DMXL1, TSC2, TSC1, TCF4, FOXP1, GABBR2, KANSL1, EHMT1. l ( Ip36 deletion, Wolf-Hirschhorn , partial trisomy 18, mosaic Patau Metabolic :SOUX, MOCS1(2), PEX1 and Zellweger (3), PNPO(2), ALDH7A1(2) ), Non-kenotic hyperglycinemia((3), Urea cycle defects(2), Organic acidemias (N=8), MSUD (3), TIMM50,HTRA2, COQ8A (2), Cytochrome oxidase deficiency Tandem MS spectrometry, Serum Amino acid profiles, Ammonia, Lactate, Acylcarnitine profile, CSF neurotransmitters (glycine, glucose, ect) CONCLUSIONS: due to high prevalence of consanguineous marriage in Arabia epilepsy due to genetic and metabolic diseases are common and now possible to be diagnosed early due availability of genetic testing. So early management with antiepileptics, special diets ,cofactor supplementation can cure or alter the prognosis of these disorders. Likewise early genetic counseling and PGD can be offered to families with incurable diseases.

ELSAYED ALI
KFMMC DHAHRAN
Saudi Arabia

RASHID SALIH
KFMMC DHAHRAN
Saudi Arabia

MOHAMED ELAMIN
KFMMC DHAHRAN
Saudi Arabia