Refining the electro-clinical spectrum of NPRL3-related epilepsy: a novel multiplex family and literature review.
Alice DainelliMichele IacominoSara RossatoSamuela BuginMonica TraversoMariasavina SeverinoStefano GustincichValeria CapraMarco Di DucaFederico ZaraMarcello ScalaPasquale StrianoPublished in: Epilepsia open (2023)
We reported an illustrative NRE family with incomplete penetrance. This condition consists of a heterogeneous spectrum of clinical and neuroradiological features. Focal-onset motor seizures are predominant and almost half of the cases fulfil the criteria for SHE or FFEVF. MRI-negative cases are prevalent but the association with MCDs is significant, especially FCD type 2a. The beneficial impact of epilepsy surgery in patients with MCD-related epilepsy further supports the inclusion of brain MRI in the workup of NRE patients.
Keyphrases
- end stage renal disease
- magnetic resonance imaging
- contrast enhanced
- newly diagnosed
- minimally invasive
- ejection fraction
- chronic kidney disease
- temporal lobe epilepsy
- diffusion weighted imaging
- prognostic factors
- case report
- magnetic resonance
- coronary artery disease
- acute coronary syndrome
- atrial fibrillation
- cerebral ischemia
- percutaneous coronary intervention
- drug induced
- mass spectrometry
- subarachnoid hemorrhage