Naomichi Matsumoto Selected Research

Anticonvulsants (Antiepileptic Drugs)

5/2022	Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP1.
2/2021	Clinical variations of epileptic syndrome associated with PACS2 variant.
9/2020	KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
10/2019	Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation.
1/2019	A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.
8/2018	Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.
9/2017	Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.
5/2017	A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
3/2017	A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.
6/2016	Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy.

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Naomichi Matsumoto Research Topics

Disease

31	Seizures (Absence Seizure) 01/2024 - 06/2006
25	Brain Diseases (Brain Disorder) 11/2023 - 09/2013
16	Epilepsy (Aura) 01/2023 - 06/2010
15	Intellectual Disability (Idiocy) 01/2023 - 06/2006
12	Neurodevelopmental Disorders 03/2022 - 01/2015
9	Drug Resistant Epilepsy 11/2023 - 04/2012
9	Leukoencephalopathies 01/2023 - 11/2011
9	Infantile Spasms (West Syndrome) 01/2019 - 06/2010
7	Neoplasms (Cancer) 03/2024 - 06/2003
7	Ataxia (Dyssynergia) 01/2024 - 06/2015
7	Muscle Hypotonia (Hypotonia) 01/2022 - 03/2015
7	Atrophy 01/2019 - 06/2012
6	Hemorrhage 12/2023 - 02/2017
6	Dystonia (Limb Dystonia) 12/2023 - 04/2014
6	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2019 - 03/2010
6	Atrial Fibrillation 12/2016 - 07/2002
5	VEXAS syndrome 10/2023 - 01/2022
5	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2021 - 06/2010
4	Sotos Syndrome 01/2024 - 01/2004
4	Schizencephaly 12/2023 - 01/2013
4	Congenital Disorders of Glycosylation 11/2022 - 02/2014
4	Partial Epilepsies (Epilepsy, Partial) 01/2022 - 02/2019
4	Cerebellar Ataxia (Dysmetria) 12/2021 - 01/2006
4	Microcephaly 08/2021 - 06/2006
4	Mitochondrial Diseases (Mitochondrial Disease) 03/2021 - 04/2014
4	Craniosynostoses (Craniosynostosis) 01/2020 - 06/2006
4	Loeys-Dietz Syndrome 12/2008 - 08/2006
3	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 03/2024 - 01/2022
3	Hydrocephalus (Hydrocephaly) 03/2024 - 08/2011
3	Porencephaly 12/2023 - 01/2012
3	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 11/2023 - 05/2015
3	Neuronal intranuclear inclusion disease 01/2023 - 01/2022
3	Rett Syndrome (Rett's Disorder) 05/2022 - 05/2014
3	Chorea (Rheumatic Chorea) 01/2021 - 01/2016
3	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021 - 10/2019
3	Movement Disorders (Movement Disorder) 12/2020 - 04/2015
3	Spasm (Spasms) 07/2019 - 04/2015
3	Infantile Epileptic-Dyskinetic Encephalopathy 01/2018 - 01/2012
3	Pelizaeus-Merzbacher Disease 03/2015 - 08/2003
3	Marfan Syndrome (Marfan's Syndrome) 08/2006 - 08/2004
2	Carcinogenesis 02/2024 - 12/2023
2	Infections 11/2023 - 04/2016
2	Chromosome Aberrations (Chromosome Abnormalities) 08/2023 - 01/2006
2	Fever (Fevers) 07/2023 - 01/2019
2	Arthritis (Polyarthritis) 07/2023 - 09/2019
2	Dyskinesias (Dyskinesia) 05/2023 - 01/2021
2	Peripheral Nervous System Diseases (PNS Diseases) 11/2022 - 03/2017
2	Moyamoya Disease (Moya-Moya Disease) 10/2022 - 06/2020
2	Polymicrogyria 02/2022 - 06/2006
2	Hematoma 01/2022 - 08/2011
2	Hemophilia A (Haemophilia) 01/2022 - 01/2018
2	Leigh Disease (Leigh's Disease) 12/2021 - 03/2016

Drug/Important Bio-Agent (IBA)

30	Proteins (Proteins, Gene)FDA Link 11/2023 - 01/2002
12	Anticonvulsants (Antiepileptic Drugs)IBA 05/2022 - 04/2012
11	DNA (Deoxyribonucleic Acid)IBA 12/2023 - 01/2006
10	EnzymesIBA 10/2023 - 06/2013
8	Transforming Growth Factor-beta Type II ReceptorIBA 12/2008 - 01/2004
6	Valproic Acid (Depakote)FDA LinkGeneric 08/2023 - 07/2013
6	Adrenocorticotropic Hormone (ACTH)FDA Link 08/2018 - 03/2013
5	Transcription Factors (Transcription Factor)IBA 02/2024 - 09/2009
5	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2024 - 02/2014
5	IronIBA 05/2020 - 03/2010
5	Retinaldehyde (Retinal)IBA 01/2019 - 01/2012
5	SpectrinIBA 09/2017 - 06/2010
4	perampanelIBA 12/2023 - 10/2019
4	CollagenIBA 12/2023 - 08/2011
4	Carbamazepine (Tegretol)FDA LinkGeneric 02/2022 - 07/2013
4	Nonsense Codon (Nonsense Mutation)IBA 08/2021 - 04/2016
4	Lactic Acid (Lactate)FDA LinkGeneric 08/2021 - 04/2013
4	Quinidine (Chinidin)FDA LinkGeneric 09/2020 - 03/2016
3	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 03/2024 - 08/2011
3	Adenosine Triphosphate (ATP)IBA 01/2024 - 05/2012
3	Glycoproteins (Glycoprotein)IBA 12/2023 - 01/2021
3	NucleotidesIBA 08/2023 - 10/2019
3	5' Untranslated Regions (5' UTR)IBA 11/2022 - 01/2006
3	SodiumIBA 02/2022 - 05/2016
3	Hemostatics (Antihemorrhagics)IBA 01/2022 - 02/2017
3	Amino Acids FDA Link 12/2021 - 12/2018
3	Collagen Type IV (Type IV Collagen)IBA 01/2021 - 01/2012
3	Histone MethyltransferasesIBA 01/2020 - 03/2008
3	Alkaline PhosphataseIBA 01/2018 - 02/2014
3	Topiramate (Topamax)FDA LinkGeneric 05/2017 - 04/2012
3	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 03/2008 - 01/2004
3	Transforming Growth Factor-beta Type I ReceptorIBA 04/2007 - 08/2006
2	Biomarkers (Surrogate Marker)IBA 12/2023 - 01/2022
2	Histones (Histone)IBA 12/2023 - 01/2020
2	FilaminsIBA 10/2022 - 05/2022
2	Carrier Proteins (Binding Protein)IBA 05/2022 - 09/2009
2	Transfer RNA (tRNA)IBA 02/2022 - 04/2017
2	Glutamic Acid (Glutamate)FDA Link 02/2022 - 02/2022
2	recombinant FVIIa (rFVIIa)FDA Link 01/2022 - 02/2017
2	Vitamin B 6IBA 01/2022 - 12/2018
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2019
2	Adenosine Triphosphatases (ATPase)IBA 01/2022 - 01/2018

Therapy/Procedure

16	Therapeutics 03/2024 - 01/2011
3	Artificial Respiration (Mechanical Ventilation) 12/2023 - 04/2018
3	Deep Brain Stimulation 05/2023 - 05/2017
3	Ketogenic Diet 01/2022 - 06/2016
3	Sutures (Suture) 06/2008 - 06/2006
2	Tooth Extraction (Tooth Extractions) 01/2022 - 01/2018