[Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children].

Objectives: To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.

Methods: The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.

The rostral to caudal gradient of clinical and electrophysiological features in sporadic amyotrophic lateral sclerosis with bulbar-onset.

Objective: Amyotrophic lateral sclerosis (ALS) with bulbar-onset (BO-ALS) tends to propagate to the adjacent anatomical regions symptomatically. However, the spreading pattern of clinical and electrophysiological features is not well documented.

Methods: This retrospective study enrolled consecutive patients with sporadic BO-ALS.