Publications by authors named "Kouhei Den"

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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Masamune Sakamoto, Den Kouhei, Muzhirah Haniffa, Sebastián Silva, Mónica Troncoso

J Hum Genet· September 2020

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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi

BMC Neurol· October 2019

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A novel de novo frameshift variant in SETD1B causes epilepsy.
Kouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, Satoko Miyatake, Atsushi Takata

J Hum Genet· August 2019

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Kouhei Den

Nat Commun· June 2019

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