Tojo Nakayama

Sendai, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 33 publications

Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.

Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.

Journal: bioRxiv : the preprint server for biology

Published: March 10, 2025

Gene therapy for targeting a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.

Gene therapy for targeting a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.

Journal: bioRxiv : the preprint server for biology

Published: November 01, 2024

RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.

RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.

Journal: Nature communications

Published: October 18, 2024

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.

Journal: Nature medicine

Published: August 30, 2024

A framework for individualized splice-switching oligonucleotide therapy.

A framework for individualized splice-switching oligonucleotide therapy.

Journal: Nature

Published: March 22, 2022

Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.

Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.

Journal: iScience

Published: December 10, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 06, 2020

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

Journal: Communications biology

Published: September 04, 2018

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Journal: American journal of medical genetics. Part A

Published: February 20, 2017

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Journal: Human mutation

Published: January 17, 2017

Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms.

Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms.

Journal: No to hattatsu = Brain and development

Published: November 01, 2016

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: September 08, 2016

Showing 1-12 of 33

Last Updated: 09/26/2026