Azusa Ikeda
Yokohama, Japan
Last Updated: 09/26/2026
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Found 23 publications
A GABRA4 Variant of the GABA(A) Receptor Located in the Extracellular Domain Potentially Contributes to Developmental Delay and Epilepsy.
Journal: American journal of medical genetics. Part A
Published: March 28, 2026
Correction: Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management.
Journal: Pediatric cardiology
Published: January 17, 2026
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.
Journal: Neurogenetics
Published: October 12, 2025
Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management.
Journal: Pediatric cardiology
Published: September 17, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Journal: The journal of allergy and clinical immunology. Global
Published: January 22, 2025
Successful treatment with teduglutide for an adolescent with cerebral palsy accompanied by short bowel syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 16, 2024
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant.
Journal: American journal of medical genetics. Part A
Published: January 28, 2024
Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.
Journal: Brain & development
Published: March 17, 2023
Pediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report.
Journal: Journal of medical case reports
Published: February 08, 2023
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Journal: Frontiers in neurology
Published: October 31, 2022
Last Updated: 09/26/2026