Tomoyuki Akiyama
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View article: Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling
Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling Open
View article: Disease progress in a patient with pyridoxine-dependent epilepsy, who was diagnosed at 12 months of age
Disease progress in a patient with pyridoxine-dependent epilepsy, who was diagnosed at 12 months of age Open
View article: EEG-Based Inter-Patient Epileptic Seizure Detection Combining Domain Adversarial Training with CNN-BiLSTM Network
EEG-Based Inter-Patient Epileptic Seizure Detection Combining Domain Adversarial Training with CNN-BiLSTM Network Open
Automated epileptic seizure detection from electroencephalogram (EEG) remains challenging due to significant individual differences in EEG patterns across patients. While existing studies achieve high accuracy with patient-specific approac…
View article: Vitamin <scp>B6</scp> Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin <scp>B6</scp> Metabolism by Supplementation and Enzyme Replacement Therapy
Vitamin <span>B6</span> Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin <span>B6</span> Metabolism by Supplementation and Enzyme Replacement Therapy Open
This study reports the concentrations of major vitamin B6 (VB6) vitamers (pyridoxal 5′‐phospate [PLP], pyridoxal [PL], and 4‐pyridoxic acid [PA]) in over 100 hypophosphatasia (HPP) cases to explore clues for clinical severity, to improve d…
View article: Investigation of the relationship between 0.5–1200 Hz signal characteristics of cortical high-frequency oscillations and epileptogenicity through multivariate analysis
Investigation of the relationship between 0.5–1200 Hz signal characteristics of cortical high-frequency oscillations and epileptogenicity through multivariate analysis Open
View article: Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism
Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism Open
Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy characterized by drug‐resistant seizures and multiple comorbidities. It has been reported that in adulthood, it may be accompanied by parkinsonism, but the…
View article: Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature
Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature Open
The use of asfotase alfa, a bone-targeted recombinant alkaline phosphatase (ALP) enzyme, for the treatment of adult-onset hypophosphatasia (HPP) remains controversial, particularly in patients without evident bone abnormalities. We report …
View article: Adult hypophosphatasia presenting with recurrent acute joint pain
Adult hypophosphatasia presenting with recurrent acute joint pain Open
Summary Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL , the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fr…
View article: Japanese guidelines for treatment of pediatric status epilepticus – 2023
Japanese guidelines for treatment of pediatric status epilepticus – 2023 Open
The updated definition of status epilepticus (SE) by the International League Against Epilepsy in 2015 included two critical time points (t1: at which the seizure should be regarded as an "abnormally prolonged seizure"; and t
View article: Editorial comments on “Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation”
Editorial comments on “Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation” Open
View article: Epileptic Seizure Detection Using a Recurrent Neural Network With Temporal Features Derived From a Scale Mixture EEG Model
Epileptic Seizure Detection Using a Recurrent Neural Network With Temporal Features Derived From a Scale Mixture EEG Model Open
Automated detection of epileptic seizures from scalp Electroencephalogram (EEG) is crucial for improving epilepsy diagnosis and management. This paper presents an automated inter-patient epileptic seizure detection method using multichanne…
View article: A patient with epilepsy presenting with abnormal behavior and intellectual deterioration as early symptoms
A patient with epilepsy presenting with abnormal behavior and intellectual deterioration as early symptoms Open
We herein report a case of epilepsy in an adolescent patient with epilepsy whose chief complaints at presentation were abnormal behavior and intellectual deterioration. The patient, a Japanese adolescent female, first visited our departmen…
View article: Table of Contents
Table of Contents Open
View article: A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation Open
The clinical presentation of this case was inconsistent with Rett syndrome, and the rapid regression in the patient's twenties was considered characteristic. Mutations of MECP2 may result in variable neurodevelopmental phenotypes and may a…
View article: Supplementary Material for: Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults
Supplementary Material for: Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults Open
Background: Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It i…
View article: Two Cases of Monozygotic Twins with Early-onset Isolated (DYT1) Dystonia Effectively Treated with Bilateral Globus Pallidus Internus Stimulation
Two Cases of Monozygotic Twins with Early-onset Isolated (DYT1) Dystonia Effectively Treated with Bilateral Globus Pallidus Internus Stimulation Open
Early-onset isolated (DYT1) dystonia is one of the most common forms of primary dystonia in childhood, and deep brain stimulation of the globus pallidus internus (GPi-DBS) is a highly effective treatment for it. However, the effectiveness …
View article: Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases
Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases Open
Objective The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5‐methyltetrahydrofolic acid (5MTHF) across the blood–cerebrospinal fluid (CSF) barrier…
View article: A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia Open
View article: Sirolimus for epileptic seizures associated with focal cortical dysplasia type <scp>II</scp>
Sirolimus for epileptic seizures associated with focal cortical dysplasia type <span>II</span> Open
Objective To determine whether sirolimus, a mechanistic target of rapamycin (mTOR) inhibitor, reduces epileptic seizures associated with focal cortical dysplasia (FCD) type II. Methods Sixteen patients (aged 6–57 years) with FCD type II re…
View article: Additional file 3 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
Additional file 3 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia Open
Additional file 3. Japanese prevalence of the each variant with Japanese Multi Omics Reference Panel.
View article: A Time-Series Scale Mixture Model of EEG with a Hidden Markov Structure for Epileptic Seizure Detection
A Time-Series Scale Mixture Model of EEG with a Hidden Markov Structure for Epileptic Seizure Detection Open
In this paper, we propose a time-series stochastic model based on a scale mixture distribution with Markov transitions to detect epileptic seizures in electroencephalography (EEG). In the proposed model, an EEG signal at each time point is…
View article: A Time-Series Scale Mixture Model of EEG with a Hidden Markov Structure\n for Epileptic Seizure Detection
A Time-Series Scale Mixture Model of EEG with a Hidden Markov Structure\n for Epileptic Seizure Detection Open
In this paper, we propose a time-series stochastic model based on a scale\nmixture distribution with Markov transitions to detect epileptic seizures in\nelectroencephalography (EEG). In the proposed model, an EEG signal at each time\npoint…
View article: Case Report: High-Gamma Oscillations on an Ictal Electroencephalogram in a Newborn Patient With Hypoxic–Ischemic Encephalopathy
Case Report: High-Gamma Oscillations on an Ictal Electroencephalogram in a Newborn Patient With Hypoxic–Ischemic Encephalopathy Open
Fast oscillations (FOs) >40 Hz in electroencephalograms (EEGs) are associated with ictogenesis and epileptogenesis in adults and children with epilepsy. However, only a few previous studies showed FOs in neonates. Reported frequencies o…
View article: A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia
A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia Open
BackgroundHypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The phenotype of HPP is widely diverse from the perinatal severe form to t…
View article: Exclusion of the Possibility of “False Ripples” From Ripple Band High-Frequency Oscillations Recorded From Scalp Electroencephalogram in Children With Epilepsy
Exclusion of the Possibility of “False Ripples” From Ripple Band High-Frequency Oscillations Recorded From Scalp Electroencephalogram in Children With Epilepsy Open
Aim Ripple-band epileptic high-frequency oscillations (HFOs) can be recorded by scalp electroencephalography (EEG), and tend to be associated with epileptic spikes. However, there is a concern that the filtration of steep waveforms such as…
View article: A study on the relationship between non-epileptic fast (40 – 200 Hz) oscillations in scalp EEG and development in children
A study on the relationship between non-epileptic fast (40 – 200 Hz) oscillations in scalp EEG and development in children Open
The production of non-epileptic scalp ripples was confirmed to be associated with brain development and function/dysfunction in childhood. Further investigation is necessary to interpret all of the information on higher brain functions tha…
View article: Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials Open
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-o…
View article: Non-Gaussianity Detection of EEG Signals Based on a Multivariate Scale Mixture Model for Diagnosis of Epileptic Seizures
Non-Gaussianity Detection of EEG Signals Based on a Multivariate Scale Mixture Model for Diagnosis of Epileptic Seizures Open
The stochastic fluctuations of EEG quantified by the proposed model can help detect epileptic seizures with high accuracy.
View article: A Case of Dramatic Improvement of Lennox-Gastaut Syndrome in Both Seizures and Aggressive Behaviors by Perampanel
A Case of Dramatic Improvement of Lennox-Gastaut Syndrome in Both Seizures and Aggressive Behaviors by Perampanel Open
ペランパネル（PER）は選択的AMPA受容体拮抗作用を有する新規抗てんかん薬であるが、Lennox-Gastaut症候群（LGS）に対する効果は未確定で、易刺激性の副作用もあり精神・行動に対する影響が危惧される。本症例は22歳男性で、生後5カ月にWest症候群を発症した。ACTH療法や各種抗てんかん薬の治療に抵抗した。2歳頃から強直発作が出現し、脳波で緩徐性棘徐波複合、全般性突発性速律動を認めLGSへの変容を示した。5歳より易興奮性、攻撃的行動異常が出現し、9歳より焦点意識…
View article: A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations Open
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn …