Barbora Straka, Miroslav Koblížek, Barbora Heřmanovská, Radka Valkovičová, Lenka Krsková, Markéta Kalinová, Markéta Vlčková, Josef Zámečník, Petra Laššuthová, Lucie Sedláčková, David Staněk, Alice Maulisová, Michal Tichý, Martin Kynčl, Pavel Kršek
Focal cortical dysplasia (FCD) represents the most common cause of drug-resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug-resistant epilepsy evolving in super-refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood- and brain-derived DNA) and histopathological investigations...
November 9, 2023: Epilepsia Open