Article
Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy.
Epileptic disorders : international epilepsy journal with videotape - 1 Feb 2024
Matsubara Kohei, Kuki Ichiro, Ishioka Risako, Yamada Naoki, Fukuoka Masataka, Inoue Takeshi, Nukui Megumi, Okamoto Nobuhiko, Mizuguchi Takeshi, Matsumoto Naomichi, Okazaki Shin
Abstract excerpt
Dynamin-1 (DNM1) is involved in synaptic vesicle recycling, and DNM1 mutations can lead to developmental and epileptic encephalopathy. The neuroimaging of DNM1 encephalopathy has not been reported in detail. We describe a severe phenotype of DNM1 encephalopathy showing characteristic neuroradiological features. In addition, we reviewed previously reported cases who have DNM1 pathogenic variants with white matter...
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