Takuya Hiraide

Hamamatsu, Japan

Last Updated: 09/26/2026

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Found 38 publications

A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.

A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 31, 2026

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Journal: Brain & development

Published: April 01, 2026

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

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

Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.

Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.

Journal: Journal of human genetics

Published: June 21, 2025

Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant.

Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant.

Journal: Seizure

Published: May 14, 2025

An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.

An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.

Journal: Brain & development

Published: March 14, 2025

Vitamin A Deficiency in Children With Autism Spectrum Disorder.

Vitamin A Deficiency in Children With Autism Spectrum Disorder.

Journal: Cureus

Published: January 01, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Journal: Scientific reports

Published: June 12, 2024

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.

Journal: Frontiers in pediatrics

Published: December 24, 2023

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.

Journal: Journal of human genetics

Published: August 09, 2023

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.

Journal: Journal of human genetics

Published: September 14, 2022

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.

Journal: Journal of human genetics

Published: May 09, 2022

Showing 1-12 of 38

Last Updated: 09/26/2026