Cell reprogramming to model epilepsy

CASALIA, MARIANA; JUAN CRUZ CASABONA; CAVALIERE, VERÓNICA; FARIAS, MARIA I.; GONZALEZ, JOAQUÍN; QUINTÁ, RAMIRO; PASQUINI, JUANA MARIA; KAUFFMAN, MARCELO; F.J. PITOSSI

Congreso; SAN; 2014

SAN

Epilepsy is the third most common neurological disorder, affecting patients of all ages. It is estimated that 1% of the global population will develop epilepsy at some point in their lives. The available therapies act on the symptoms and not the causes. The Benign Focal Childhood Epilepsies (BFCEs) represent the most prevalent syndromes in the pediatric population. The field is in need of new models for this disorder, which would allow an advance in the knowledge of the pathology and may provide new treatments. We sought to model epilepsy using cellular reprogramming technology, from a skin biopsy of patients carrying a mutation that could be the cause of the epileptic phenotype