Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing

A loss-of-function mutation in CACNA1A, which encodes P/Q-type Ca channels, causes various diseases. As most of the Ca channels at neuromuscular junctions are of the P/Q type, patients with loss-of-function CACNA1A mutations exhibit disturbed neuromuscular transmission. The associated jitters and blocking in such patients can be detected by single-fiber electromyography (SFEMG).

Source: Brain and Development - July 5, 2019 Category: Neurology Authors: Ayaka Hirasawa-Inoue, Akihiko Ishiyama, Eri Takeshita, Yuko Shimizu-Motohashi, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Shota Yuasa, Hirotomo Saitsu, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masayuki Sasaki Tags: Case Report Source Type: research