The mutation of TBC1D24 associated with epilepsy: About 3 cases

Purpose : The aim of our work is to study the clinical, electrical, imaging and evolutionary profile epilepsy caused by mutation TBC1D24 gene in patients emphasize interest genetic counseling.
 Methodology This a qualitative observational about 3 cases, highlighting characteristics disease.
 Findings In this we report clinical history three from two families, hospitalized at Mohamed V hospital Tangier, during year 2022, having common first degree consanguinity, severe epilepsy, pharmaco-resistant, with very early onset months life, several hospitalizations for epileptic seizures, repercussion on psychomotor development, schooling was noted children, confirmed presence gene.
 Unique contribution theory, practice policy: cases reported literature are not numerous (1) (2) (3). Balestrini et al (1), 48 followed related gene, great heterogeneity, an age childhood.
 correlation between known time 2010,it represents ranging simple seizure good cognitive intellectual development complete control disease, encephalopathy, so can be associated brain malformations found syndromes including DOORS syndrome (which associates deafness, disability, onycho-dystrophy, osteo-dystrophy).
 also described non-syndromic deafness people suffering various forms familial infantile myoclonic progressive focal migrating writer's stress-induced paroxysmal rolandic-dystonic syndrome.
 A panel genes were searched particular situations when there epilepsies, or similar family without other damaged organ, thus screening indicated wide variety epilepsies.