Author

Dr. Shinichi Hirose

General Medical Research Center, School of Med., Fukuoka University - Cited by 10,618

Biography

Shinichi Hirose, MD, PhD is a Professor of Pediatrics, Head of both the Department of Pediatrics and the Research Center for Molecular Pathomechanisms of Epilepsy at Fukuoka University, and a member of the standing committee of the International Pediatric Association (IPA). His interests are in the molecular genetics of epilepsies. He has worked extensively on causative mutations and their molecular consequences in the neuroscience mechanisms underlying epilepsies, and has published extensively on the molecular pathomechanisms of epilepsies. He is the principal investigator on numerous clinical studies and has studied many childhood diseases including epilepsies, metabolic diseases, and inherited diseases.
Title
Cited by
Year
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
A Goto, A Ishii, M Shibata, Y Ihara, EC Cooper, S HiroseEpilepsia 60 (9), 18-1880, 2019201
70
2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
K Momosaki, J Kido, S Yoshida, K Sugawara, T Miyamoto, T Inoue, ...Journal of Human Genetics 64 (8), 741-755, 2019201
43
2019
Newborn screening for Fabry disease in the western region of Japan
T Sawada, J Kido, S Yoshida, K Sugawara, K Momosaki, T Inoue, ...Molecular genetics and metabolism reports 22, 100562, 2020202
42
2020
miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation
T Kozuka, Y Omori, S Watanabe, E Tarusawa, H Yamamoto, T Chaya, ...Scientific reports 9 (1), 3445, 2019201
36
2019
Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome
S Yoshitomi, Y Takahashi, T Yamaguchi, K Imai, A Ishii, S Hirose, Y InoueEpilepsy research 154, 34-38, 2019201
26
2019
Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations
S Yoshitomi, Y Takahashi, T Yamaguchi, T Oboshi, A Horino, H Ikeda, ...Epileptic Disorders 21 (1), 48-54, 2019201
25
2019
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...The American Journal of Human Genetics 108 (6), 965-982, 2021202
24
2021
Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force
K Kobow, CA Reid, EA van Vliet, AJ Becker, GL Carvill, AM Goldman, ...Epileptic Disorders 22 (2), 127-141,
20
2020
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia
A Okumura, K Shimojima, H Kurahashi, S Numoto, S Shimada, A Ishii, ...Seizure 71, 1-5, 202
19
2019
DCTN1 binds to TDP-43 and regulates TDP-43 aggregation
M Deshimaru, M Kinoshita-Kawada, K Kubota, T Watanabe, Y Tanaka, ...International journal of molecular sciences 22 (8), 3985, 2021202
16
2021
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
T Suzuki, T Suzuki, M Raveau, N Miyake, G Sudo, Y Tsurusaki, ...Annals of Clinical and Translational Neurology 7 (7), 1117-1131, 2020202
14
2020
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy
M Shibata, A Ishii, A Goto, S HiroseJournal of human genetics 66 (6), 569-578, 2021202
14
2021
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features
A Okumura, K Maruyama, M Shibata, H Kurahashi, A Ishii, S Numoto, ...Brain and Development 40 (10), 926-930, 2018201
13
2018
Circadian transcription factor HSF1 regulates differential HSP70 gene transcription during the arousal-torpor cycle in mammalian hibernation
D Tsukamoto, T Hasegawa, S Hirose, Y Sakurai, M Ito, N TakamatsuScientific Reports 9 (1), 832, 2019201
13
2019
Application of induced pluripotent stem cells in epilepsy
S Hirose, Y Tanaka, M Shibata, Y Kimura, M Ishikawa, N Higurashi, ...Molecular and Cellular Neuroscience 108, 103535, 2020202
11
2020
Physical, cognitive, and social status of patients with urea cycle disorders in Japan
J Kido, S Matsumoto, T Ito, S Hirose, K Fukui, K Kojima-Ishii, Y Mushimoto, ...Molecular Genetics and Metabolism Reports 27, 0724, 2021202
10
2021
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons
E Ichise, T Chiyonobu, M Ishikawa, Y Tanaka, M Shibata, T Tozawa, ...Human molecular genetics 30 (14), 1337-1348, 2021202
10
2021
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 10-epilepsy gene panelK Hirabayashi, DT Uehara, H Abe, A Ishii, K Moriyama, S Hirose, ...Journal of Human Genetics 64 (11), 107-1106, 20120
9
2019
Genetics and gene therapy in Dravet syndrome
N Higurashi, V Broccoli, S HiroseEpilepsy & Behavior 131, 108043, 2022202
9
2022
Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a+/− mouse model of Dravet syndrome
K Uchino, H Kawano, Y Tanaka, Y Adaniya, A Asahara, M Deshimaru, ...Scientific Reports 11 (1), 10634, 2021202
7
2021

Referred From: https://scholar.google.be/citations?user=4oLESi8AAAAJ&hl=en

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Citations 10618
h-index 56
i10-index 191
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