Concepedia

Hirofumi Kashii

HK

Statistics

Publications

11

Citations

628

H-Index

10

Active since

2013

Affiliations

Yokohama City University(Current)

Tokyo Metropolitan Neurological Hospital

National Center For Child Health and Development

National Center of Neurology and Psychiatry

SHOWA Medical University

Hirofumi Kashii is an author at Yokohama City University specializing in genetics, life sciences, and neurogenetics.

ORCID

Publications per year

2013–2024

11

Publications

11

Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota et al. · Epilepsia · 2013 · 226 citations · Full text

, , +17

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 71 citations · Full text

, , +17

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami et al. · Neurogenetics · 2014 · 69 citations

, , +11

Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero

Hiroko Kotajima‐Murakami, Toshiyuki Kobayashi, Hirofumi Kashii et al. · Molecular Brain · 2019 · 56 citations · Full text

, , +16

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

, , +16

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