[PDF][PDF] Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients.

NS Younis, ME Mohamed, AA Alolayan… - European Review for …, 2022‏ - europeanreview.org
Saudi Genome program is a revolutionary nationwide transformation initiative of Saudi
Vision 2030. The program goals are to recognize and reduce the incidence of genetic …

[PDF][PDF] Genetic landscape of epilepsies in Kingdom of Saudi Arabia: a brief review

W Altwaijri - Journal of Biochemical and Clinical Genetics, 2022‏ - jbcgenetics.com
Epilepsy is a common chronic neurological problem with a prevalence rate of 6.5 per 1,000
in Saudi Arabia. In the field of epilepsy genetics, the rapid pace of gene discovery has …

Síndrome de défice de GLUT1: variabilidade do espetro clínico e subdiagnóstico

V Taranu - 2021‏ - search.proquest.com
A síndrome de défice da proteína transportadora de glicose 1 (GLUT1-DS) é causada por
variantes patogénicas no gene SLC2A1. A proteína GLUT1 está presente na barreira …

Genetic characterisation of an epidemiological cohort of children under 16 years with developmental and epileptic encephalopathy or intellectual disability and …

GV Poke - 2023‏ - ourarchive.otago.ac.nz
Children with epilepsy and developmental impairment encompass two groups:
developmental and epileptic encephalopathy (DEE) and intellectual disability and epilepsy …