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De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies

Misako Kunii, Hiroshi Doi, Shunta Hashiguchi, Toyojiro Matsuishi, Yasunari Sakai, Mizue Iai, Masaki Okubo, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Hideyuki Takeuchi, Taro Ishikawa, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Fumiaki Tanaka

2020Journal of the Neurological Sciences22 citationsDOI

Topics & Concepts

BiologyMutationMissense mutationGeneticsNeurodevelopmental disorderPhenotypeEpilepsyExome sequencingGeneNeuroscienceIon channel regulation and functionGenomics and Rare DiseasesCardiac electrophysiology and arrhythmias
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies | Litcius