Naomichi Matsumoto - Genetic Mutations

Author Information

Naomichi Matsumoto is a distinguished researcher affiliated with the Department of Human Genetics at the Graduate School of Medicine, Yokohama City University in Yokohama, Japan. His work primarily focuses on the genetic underpinnings of neurodevelopmental disorders, epilepsy, and other neurological conditions.

Research Contributions

Naomichi Matsumoto has made significant contributions to the field of genetics, particularly in understanding the genetic basis of neurodevelopmental disorders and epilepsy. In 2022 alone, he has authored several impactful papers, including studies on KCNMA1-related channelopathy, cerebellar ataxia, SOX2 microdeletion, and RFC1-related Parkinson's disease. His research efforts have led to the discovery of novel genes associated with neurodevelopmental disorders and have provided insights into the mechanisms and potential treatments for these conditions.

Aliases

N Matsumoto, N. Matsumoto, Naomichi Matsumoto

Publication and Citation Metrics

Metric	Value
Citation Count	25078
H-index	75
Paper Count	874

Publications:

Polymicrogyria in a child with KCNMA1-related channelopathy

DOI: 10.1016/j.braindev.2021.09.009

Year: 2022

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

DOI: 10.1093/brain/awab363

Year: 2022

Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion

DOI: 10.1016/j.braindev.2021.07.007

Year: 2022

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies

DOI: 10.1212/WNL.0000000000013008

Year: 2022

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

DOI: 10.1016/j.ajhg.2022.02.007

Year: 2022

Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease

DOI: 10.1038/s41531-021-00275-7

Year: 2022

A case of epilepsy of infancy with migrating focal seizures caused by mosaic SCN2A mutation

DOI: 10.3805/eands.14.17

Year: 2022

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

DOI: 10.1186/s13073-022-01042-w

Year: 2022

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

DOI: 10.1038/s10038-022-01025-0

Year: 2022

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

DOI: 10.1007/s00439-021-02416-7

Year: 2022

What are the Global Implications?

What is Gene Amplification?

Why is Studying Missense Mutations Important?

How Effective Are PARP Inhibitors?

Why Study Genetic Mutations?

What is Hemoglobin S (HbS)?

What Causes the Mutation in HbS?

What are the Challenges in Data Analysis?

How is Sickle Cell Anemia Diagnosed?

What are the Symptoms?

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