Jeehun Lee

6MWT 6-min walk test CC correlation coefficient DMD Duchenne muscular dystrophy MEP maximal expiratory pressure MGV mean grayscale value MGV-arm mean grayscale value of upper extremity muscles (average of the mean grayscale value of deltoid, biceps brachii, and flexor carpi radialis muscles) MGV-leg mean grayscale value of lower extremity muscles (average of the mean grayscale value of rectus femoris, tibialis anterior, and gastrocnemius muscles) MGV-neck mean grayscale value of head and neck...

Self-limited infantile epilepsy (SeLIE) has distinctive clinical features, and the PRRT2 gene is known to be a considerable genetic cause. There have been a few studies on PRRT2-positive SeLIE only, and anti-seizure medications are often required due to frequent seizures at initial seizure onset. This study aimed to provide clinical information for the early recognition of patients with PRRT2-positive SeLIE and to propose effective anti-seizure medications for seizure control.

Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone.