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Jun Tohyama | doi.page

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Jun Tohyama

Nishi Niigata Chuo National Hospital(JP)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Neuroscience and Neuropharmacology Research

Most-Cited Works

→ De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy(2008)541 cited
→ De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy(2013)230 cited
→ Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb(2015)197 cited
→ Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome(2013)196 cited
→ Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder(2018)183 cited
→ A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)(2007)178 cited

→ Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay(2010)

152 cited

→ Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus(2007)147 cited

→ Single and Multiple Clusters of Magnetoencephalographic Dipoles in Neocortical Epilepsy: Significance in Characterizing the Epileptogenic Zone(2006)126 cited

→ De novo KCNT1 mutations in early‐onset epileptic encephalopathy(2015)125 cited