Hirotomo Saitsu

96PUBLICATIONS
191CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Molecular targets
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Publications (96)

|Jun 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

|Jun 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

|Jun 20, 2026
Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

|Apr 23, 2026
Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.

|Apr 15, 2026
CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low-gamma oscillations and seizure susceptibility.

Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda

|Mar 31, 2026
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2.

Kaori Yamoto, Sachiko Miyamoto, Shinichiro Sano

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Frequent Collaborators

32 joint publications

Mitsuko Nakashima

17 joint publications

Tsutomu Ogata

13 joint publications

Sachiko Miyamoto

13 joint publications

Maki Fukami