Noriyuki Akasaka
Niigata, Japan
Last Updated: 09/26/2026
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Found 10 publications
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.
Journal: Human genome variation
Published: April 24, 2023
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.
Journal: Neuropediatrics
Published: September 06, 2019
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Journal: Nature communications
Published: June 10, 2019
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Journal: Brain & development
Published: July 23, 2015
Rub epilepsy in an infant with Turner syndrome.
Journal: Brain & development
Published: September 06, 2014
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: April 30, 2014
Gómez-López-Hernández syndrome in a Japanese patient: a case report.
Journal: Brain & development
Published: April 24, 2014
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.
Journal: Pediatric neurology
Published: February 23, 2013
Early-onset absence epilepsy at eight months of age.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: January 20, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026