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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice

Nature communications, 2021-04, Vol.12 (1), p.2107-2107, Article 2107

2021

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High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Brain & development (Tokyo. 1979), 2016-03, Vol.38 (3), p.285-292

2016

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Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.266-270

2017

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The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

Human genome variation, 2023-06, Vol.10 (1), p.20-20, Article 20

2023

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Gómez–López-Hernández syndrome in a Japanese patient: A case report

Brain & development (Tokyo. 1979), 2015-03, Vol.37 (3), p.356-358

2015

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Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

Brain & development (Tokyo. 1979), 2012-08, Vol.34 (7), p.601-604

2012

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Rub epilepsy in an infant with Turner syndrome

Brain & development (Tokyo. 1979), 2015-08, Vol.37 (7), p.725-728

2015

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Temporal changes in brain MRI findings in Rasmussen syndrome

Epileptic disorders, 2011-09, Vol.13 (3), p.229-239

2011

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Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

Brain & development (Tokyo. 1979), 2008-05, Vol.30 (5), p.349-355

2008

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Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis

Brain & development (Tokyo. 1979), 2010-06, Vol.32 (6), p.445-453

2010

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Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

Pediatric neurology, 2013-11, Vol.49 (5), p.364-367

2013

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A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

Neuropediatrics, 2019-12, Vol.50 (6), p.391

2019

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Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Brain & development (Tokyo. 1979), 2005-03, Vol.27 (2), p.127-134

2005

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A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

American journal of human genetics, 2007-08, Vol.81 (2), p.361-366

2007

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Brain Maturation-Related Spike Localization in Panayiotopoulos Syndrome: Magnetoencephalographic Study

Pediatric neurology, 2008-02, Vol.38 (2), p.104-110

2008

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Megalencephaly and Polymicrogyria with Polydactyly Syndrome

Pediatric neurology, 2007-08, Vol.37 (2), p.148-151

2007

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Magnetoencephalographic Findings of Panayiotopoulos Syndrome With Frontal Epileptic Discharges

Pediatric neurology, 2007-03, Vol.36 (3), p.190-194

2007

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West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2584-2588

2011

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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

Epileptic disorders, 2014-06, Vol.16 (2), p.208-212

2014

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Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I

Clinical & developmental immunology, 2006-06, Vol.13 (2-4), p.381-387

2006

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An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography

No to hattatsu, 2007-07, Vol.39 (4), p.295

2007

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Acquired Opercular Epilepsy With Oromotor Dysfunction: Magnetoencephalographic Analysis and Efficacy of Corticosteroid Therapy

Journal of child neurology, 2011-07, Vol.26 (7), p.885-890

2011

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Study of Similarity Law between Electric-Motor Driven Injection Molding Machine and Simulator at Injection Velocity Control

Transactions of the Japan Society of Mechanical Engineers Series C, 2003/06/25, Vol.69(682), pp.1662-1669

AKASAKA, Noriyuki

2003

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Genetic variations of immunoregulatory genes associated with Rasmussen syndrome

Epilepsy research, 2013-12, Vol.107 (3), p.238-243

2013

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A Magnetoencephalographic Study of Patients with Panayiotopoulos Syndrome

Epilepsia (Copenhagen), 2005-07, Vol.46 (7), p.1106-1113

2005

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

Gómez–López-Hernández syndrome in a Japanese patient: A case report

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

Rub epilepsy in an infant with Turner syndrome

Temporal changes in brain MRI findings in Rasmussen syndrome

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis

Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Brain Maturation-Related Spike Localization in Panayiotopoulos Syndrome: Magnetoencephalographic Study

Megalencephaly and Polymicrogyria with Polydactyly Syndrome

Magnetoencephalographic Findings of Panayiotopoulos Syndrome With Frontal Epileptic Discharges

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I

An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography

Acquired Opercular Epilepsy With Oromotor Dysfunction: Magnetoencephalographic Analysis and Efficacy of Corticosteroid Therapy

Study of Similarity Law between Electric-Motor Driven Injection Molding Machine and Simulator at Injection Velocity Control

Genetic variations of immunoregulatory genes associated with Rasmussen syndrome

A Magnetoencephalographic Study of Patients with Panayiotopoulos Syndrome

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