Naomichi Matsumoto Selected Research

Brain Diseases (Brain Disorder)

1/2022	Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
1/2021	De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
9/2020	A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
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.
3/2020	Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.
4/2019	An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
9/2018	Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
8/2018	Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.
1/2018	De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
1/2018	A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

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Naomichi Matsumoto Research Topics

Disease

31	Seizures (Absence Seizure) 05/2022 - 06/2006
22	Brain Diseases (Brain Disorder) 01/2022 - 09/2013
15	Epilepsy (Aura) 02/2021 - 06/2010
14	Intellectual Disability (Idiocy) 12/2020 - 06/2006
12	Neurodevelopmental Disorders 03/2022 - 01/2015
9	Infantile Spasms (West Syndrome) 01/2019 - 06/2010
8	Drug Resistant Epilepsy 05/2022 - 04/2012
8	Leukoencephalopathies 01/2022 - 11/2011
7	Muscle Hypotonia (Hypotonia) 01/2022 - 03/2015
7	Atrophy 01/2019 - 06/2012
6	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2019 - 03/2010
6	Atrial Fibrillation 12/2016 - 07/2002
5	Ataxia (Dyssynergia) 01/2022 - 06/2015
5	Neoplasms (Cancer) 01/2021 - 06/2003
5	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2021 - 06/2010
4	Dystonia (Limb Dystonia) 03/2022 - 04/2014
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	Hemorrhage 01/2018 - 02/2017
4	Loeys-Dietz Syndrome 12/2008 - 08/2006
3	Rett Syndrome (Rett's Disorder) 05/2022 - 05/2014
3	Partial Epilepsies (Epilepsy, Partial) 01/2022 - 02/2019
3	Chorea (Rheumatic Chorea) 01/2021 - 01/2016
3	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021 - 10/2019
3	Congenital Disorders of Glycosylation 01/2021 - 02/2014
3	Movement Disorders (Movement Disorder) 12/2020 - 04/2015
3	Sotos Syndrome 01/2020 - 01/2004
3	Schizencephaly 07/2019 - 01/2013
3	Spasm (Spasms) 07/2019 - 04/2015
3	Infantile Epileptic-Dyskinetic Encephalopathy 01/2018 - 01/2012
3	Autism Spectrum Disorder 01/2018 - 01/2015
3	Pelizaeus-Merzbacher Disease 03/2015 - 08/2003
3	Marfan Syndrome (Marfan's Syndrome) 08/2006 - 08/2004
2	Peripheral Nervous System Diseases (PNS Diseases) 11/2022 - 03/2017
2	Neuronal intranuclear inclusion disease 11/2022 - 01/2022
2	Polymicrogyria 02/2022 - 06/2006
2	Leigh Disease (Leigh's Disease) 12/2021 - 03/2016
2	Rubella (German Measles) 02/2021 - 04/2016
2	Tremor (Tremors) 01/2021 - 12/2020
2	Fever (Fevers) 01/2021 - 01/2019
2	Osteoporosis 01/2021 - 01/2004
2	Amenorrhea 11/2020 - 02/2011
2	Status Epilepticus (Complex Partial Status Epilepticus) 08/2020 - 06/2014
2	Parkinsonian Disorders (Parkinsonism) 05/2020 - 04/2014
2	Weaver syndrome 01/2020 - 01/2017

Drug/Important Bio-Agent (IBA)

28	Proteins (Proteins, Gene)FDA Link 03/2022 - 01/2002
12	Anticonvulsants (Antiepileptic Drugs)IBA 05/2022 - 04/2012
10	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 01/2006
8	Transforming Growth Factor-beta Type II ReceptorIBA 12/2008 - 01/2004
6	EnzymesIBA 01/2022 - 06/2013
6	Pharmaceutical PreparationsIBA 01/2021 - 03/2010
6	Adrenocorticotropic Hormone (ACTH)FDA Link 08/2018 - 03/2013
5	Valproic Acid (Depakote)FDA LinkGeneric 01/2021 - 07/2013
5	IronIBA 05/2020 - 03/2010
5	Retinaldehyde (Retinal)IBA 01/2019 - 01/2012
5	SpectrinIBA 09/2017 - 06/2010
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
4	Transcription Factors (Transcription Factor)IBA 01/2019 - 09/2009
4	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2018 - 02/2014
3	5' Untranslated Regions (5' UTR)IBA 11/2022 - 01/2006
3	perampanelIBA 05/2022 - 10/2019
3	SodiumIBA 02/2022 - 05/2016
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	CollagenIBA 10/2015 - 08/2011
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	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	Adenosine Triphosphatases (ATPase)IBA 01/2022 - 01/2018
2	NucleotidesIBA 01/2022 - 10/2019
2	Vitamin B 6IBA 01/2022 - 12/2018
2	Fatty Acids (Saturated Fatty Acids)IBA 12/2021 - 02/2014
2	Protein Isoforms (Isoforms)IBA 06/2021 - 12/2016
2	Glycoproteins (Glycoprotein)IBA 03/2021 - 01/2021
2	Transferrin (beta 2 Transferrin)IBA 03/2021 - 01/2021
2	AntibodiesIBA 02/2021 - 04/2016
2	UbiquitinIBA 01/2021 - 08/2018
2	GonadotropinsIBA 01/2021 - 02/2011
2	RNA Polymerase IIIIBA 01/2021 - 11/2011
2	GlycosaminoglycansIBA 01/2021 - 01/2014
2	Clonazepam (Rivotril)FDA LinkGeneric 11/2020 - 01/2018
2	Methyl-CpG-Binding Protein 2IBA 03/2020 - 06/2018
2	Dermatan SulfateIBA 01/2020 - 12/2011
2	Racemases and Epimerases (Epimerases and Racemases)IBA 01/2020 - 01/2002
2	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 10/2019 - 09/2018

Therapy/Procedure

12	Therapeutics 01/2022 - 01/2011
3	Sutures (Suture) 06/2008 - 06/2006
2	Ketogenic Diet 01/2022 - 06/2016
2	Kidney Transplantation 11/2021 - 03/2015
2	Deep Brain Stimulation 01/2021 - 05/2017