The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Epilepsy includes a number of medical conditions with recurrent seizures as common
denominator. The large number of different syndromes and seizure types as well as the …

This review aims to provide an updated perspective of epilepsy genetics and precision
medicine in adult patients, with special focus on developmental and epileptic …

We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a
comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A …

Background and Objectives Although genetic testing among children with epilepsy has
demonstrated clinical utility and become a part of routine testing, studies in adults are …

Cell therapies as potential treatments for Parkinson's disease first gained traction in the
1980s, owing to the clinical success of trials that used transplants of foetal midbrain …

Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset
epilepsies characterized by refractory seizures, developmental delay or regression …

N-methyl d-aspartate receptors are ligand-gated ionotropic receptors mediating a slow,
calcium-permeable component of excitatory synaptic transmission in the CNS. Variants in …

Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …