Tomoyuki Akiyama - Publications

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

Journal: Human genome variation

Published: May 13, 2026

Clinical practices in prehospital rescue medication use for pediatric status epilepticus in Japan: a nationwide questionnaire survey.

Journal: Brain & development

Published: April 20, 2026

Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.

Journal: Calcified tissue international

Published: April 13, 2026

Management of pediatric status epilepticus after hospital arrival in Japan: A nationwide questionnaire survey.

Journal: Brain & development

Published: January 29, 2026

EEG-Based Inter-Patient Epileptic Seizure Detection Combining Domain Adversarial Training with CNN-BiLSTM Network.

Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Published: December 03, 2025

Effectiveness of Pallidal Stimulation for Dystonic Storm and Subsequent Ssevere Posterior Reversible Encephalopathy Syndrome in a Patient with GNAO1 Variant.

Journal: Acta medica Okayama

Published: August 27, 2025

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling.

Journal: American journal of medical genetics. Part A

Published: July 08, 2025

Investigation of the relationship between 0.5-1200 Hz signal characteristics of cortical high-frequency oscillations and epileptogenicity through multivariate analysis.

Journal: Epilepsy & behavior reports

Published: March 01, 2025

Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.

Journal: Endocrine journal

Published: January 29, 2025

Decreased homovanillic acid and 5-hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism.

Journal: Epilepsia open

Published: January 11, 2025

Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.

Journal: Journal of inherited metabolic disease

Published: December 29, 2024

Immediate Therapeutic Response to Vigabatrin in Lissencephaly-Related Epileptic Spasms due to TUBA1A R402H Variant.

Journal: American journal of medical genetics. Part A

Published: November 19, 2024