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Satoshi Akamine

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells
2015 · Kazuhiro Ohkubo, Yasunari Sakai, et al. · Scientific Reports · 150
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Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
2015 · Hirotomo Saitsu, Ryoko Fukai, et al. · European Journal of Human Genetics · 124
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GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons
2020 · Satoshi Akamine, Sayaka Okuzono, et al. · The FASEB Journal · 39
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De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy
2016 · Yasunari Sakai, Ryoko Fukai, et al. · Annals of Human Genetics · 33
Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice
2016 · Yuki Matsushita, Yasunari Sakai, et al. · Scientific Reports · 26
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Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate
2022 · Kenichi Tetsuhara, Satoshi Akamine, et al. · Brain and Development · 24
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De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
2016 · Hikaru Kanemasa, Ryoko Fukai, et al. · BMC Neurology · 24
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Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0
2019 · Kenichi Maeda, Pin Fee Chong, et al. · Annals of Neurology · 18
Decision-making dilemmas of paediatricians: a qualitative study in Japan
2019 · Momoko Sasazuki, Yasunari Sakai, et al. · BMJ Open · 17
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Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study
2024 · Mariko Kasai, Hiroshi Sakuma, et al. · Journal of the Neurological Sciences · 14
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Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?
2020 · Saori Kawakami, Satoshi Akamine, et al. · Multiple Sclerosis and Related Disorders · 11
Gnao1 is a molecular switch that regulates the Rho signaling pathway in differentiating neurons
2024 · Ryoji Taira, Satoshi Akamine, et al. · Scientific Reports · 10
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A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
2018 · Satoshi Akamine, Yoshito Ishizaki, et al. · European Journal of Medical Genetics · 8
Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion
2017 · Yuko Ichimiya, Noriyuki Kaku, et al. · Brain and Development · 8
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus
2013 · Yasunari Sakai, Kazuhiro Ohkubo, et al. · European Journal of Medical Genetics · 8
An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome
2018 · Sayaka Okuzono, Ryoko Fukai, et al. · Brain and Development · 7
Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family
2015 · Naoko Ito, Kenji Ihara, et al. · CEN Case Reports · 7
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Shank3a/b isoforms regulate the susceptibility to seizures and thalamocortical development in the early postnatal period of mice
2023 · Sayaka Okuzono, Fumihiko Fujii, et al. · Neuroscience Research · 6
Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2
2017 · Satoshi Akamine, Noriaki Sagata, et al. · Epilepsia Open · 6
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A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia
2017 · Noriko Ohyama, Michiko Torio, et al. · Annals of Clinical Microbiology and Antimicrobials · 6
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Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease
2021 · Kenichi Maeda, Pin Fee Chong, et al. · Frontiers in Pediatrics · 5
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Sequential radiologic findings in osteopathia striata with cranial sclerosis
2019 · Y. Tomita, P.F. Chong, et al. · Diagnostic and Interventional Imaging · 4
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Sustained endocrine profiles of a girl with WAGR syndrome
2017 · Yui Takada, Yasunari Sakai, et al. · BMC Medical Genetics · 4
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Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood
2025 · Kenta Kajiwara, Daiki Setoyama, et al. · Brain and Development · 3
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Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome
2021 · Yoshie Matsubara, Satoshi Akamine, et al. · Seizure · 3
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Works count: 41
Citation count: 580
H-index: 11
I10-index: 12
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