Takashi Enokizono

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Journal: iScience

Published: March 02, 2026

Detection of interictal epileptiform discharges using multiple bilateral insertions of a newly developed microcatheter-compatible endovascular electroencephalogram electrode: A clinical feasibility trial.

Journal: Epilepsia open

Published: April 27, 2025

A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function　.

Journal: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence

Published: April 22, 2025

Valproate and lamotrigine combination therapy in children with drug-resistant focal epilepsy: an observational analysis focusing on neuroimaging abnormalities.

Journal: Brain & development

Published: April 04, 2025

Acute hemorrhagic rectal ulcer in a child with severe motor and intellectual disabilities.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: February 01, 2025

A Case of Anorexia Nervosa with Focal Cortical Dysplasia.

Journal: Case reports in psychiatry

Published: December 09, 2023

Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: November 14, 2023

Impact of COVID-19 pandemic on epilepsy care in Japan: A national-level multicenter retrospective cohort study.

Journal: Epilepsia open

Published: December 27, 2021

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.

Journal: Cells

Published: September 29, 2021

Boys with attention-deficit/hyperactivity disorder perform wider and fewer finger tapping than typically developing boys - Peer comparisons and the effects of methylphenidate from an exploratory perspective.

Journal: Brain & development

Published: July 24, 2021

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Journal: Brain & development

Published: June 12, 2020

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: May 10, 2020

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Detection of interictal epileptiform discharges using multiple bilateral insertions of a newly developed microcatheter-compatible endovascular electroencephalogram electrode: A clinical feasibility trial.

Detection of interictal epileptiform discharges using multiple bilateral insertions of a newly developed microcatheter-compatible endovascular electroencephalogram electrode: A clinical feasibility trial.

A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function .

A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function .

Valproate and lamotrigine combination therapy in children with drug-resistant focal epilepsy: an observational analysis focusing on neuroimaging abnormalities.

Valproate and lamotrigine combination therapy in children with drug-resistant focal epilepsy: an observational analysis focusing on neuroimaging abnormalities.

Acute hemorrhagic rectal ulcer in a child with severe motor and intellectual disabilities.

Acute hemorrhagic rectal ulcer in a child with severe motor and intellectual disabilities.

A Case of Anorexia Nervosa with Focal Cortical Dysplasia.

A Case of Anorexia Nervosa with Focal Cortical Dysplasia.

Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

Impact of COVID-19 pandemic on epilepsy care in Japan: A national-level multicenter retrospective cohort study.

Impact of COVID-19 pandemic on epilepsy care in Japan: A national-level multicenter retrospective cohort study.

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.

Boys with attention-deficit/hyperactivity disorder perform wider and fewer finger tapping than typically developing boys - Peer comparisons and the effects of methylphenidate from an exploratory perspective.

Boys with attention-deficit/hyperactivity disorder perform wider and fewer finger tapping than typically developing boys - Peer comparisons and the effects of methylphenidate from an exploratory perspective.

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function　.

A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function　.