Authors :
Presenting Author: Sofía Lucila Rodríguez Rivera, MD – Tecnologico de Monterrey, Zambrano Hellion Hospital, TecSalud
José Antonio Infante cantú, Pediatric Neurologist – Teconologico de Monterrey, Zambrano Hellion Hospital, TecSalud; Héctor Ramón Martínez Rodríguez, Neurologist – Tecnologico de Monterrey, Zambrano Hellion Hospital, TecSalud; Enrique Caro Osorio, Neurosurgery – Tecnologico de Monterrey, Zambrano Hellion Hospital, TecSalud
Rationale:
More than half of epilepsies have genetic bases, including those classified as idiopathic and focal and lesional forms as well as epileptic developmental encephalopathies.
1 This study aims to describe the use of genetic testing and precision medicine for epilepsy in a private tertiary hospital.
Methods:
A descriptive, retrospective, observational, cross-sectional study was conducted. Inclusion criteria included: patients with genetic epilepsy from January 2017 to January 2023. Data was obtained from clinical records. Tests (measures of central tendency, chi square) were applied in SPSS program.
Results:
A total of 514 patients with epilepsy were included, 87 patients (16.9%) had genetic epilepsy. Age: mean 13.2±4.2, range 1-45 years old. Female: 50 (57.5%). Children: 67 (77%). Adults: 20 (23%). Family history of epilepsy: 9 (10.3%). Type: focal 21.8%, generalized 72.4%, combined 5.8%. Drug resistant epilepsy: 10 (11.4%). Intelectual disability: 83%. Epileptic syndromes 55 (63.2%): developmental and epileptic encephalopathy (1.8%), benign familial neonatal seizures (1.8%), West (5.4%), Lennox Gastaut (5.4%), Febrile seizures plus (1.8%), Dravet (3.6%), Doose (3.6%), Rolandic (3.6%), Janz (25.4%), Child absence (45.4%), Juvenil absence (1.8%). Genetic syndromes 16 (18.3%): Rett (6.25%), Usher type 3 (6.25%), Lafora (6.25%), Noonan (6.25%), corpus callosum dysgenesis (12.5%), Sturge Weber (12.5%), tuberous sclerosis (18.75%), Down (31.25%). Genetic testing 10 (11.4%): gene mutations in SCN1A, SCN2A, DNM1, PNPT1, TSC1, EPM2A and chromosomopathies at 4 (insertion), 15 and 21 (duplication), X (microarray). Better target anti-seizure medications (80%): avoid sodium channel blockers (SCN1A), cannabidiol (SCN1A), phenytoin (SCN2A, DNM1, PNPT1), vigabatrine (TSC1), valproate (EPM2A), everolimus (mTOR). Correlations was found: precision medicine and controlled seizures; precision medicine and better neurodevelopment (p< 0.05).