Hirofumi Kodera

Yokohama, Japan

Last Updated: 09/26/2026

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Found 19 publications

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: February 17, 2016

De novo GABRA1 mutations in Ohtahara and West syndromes.

De novo GABRA1 mutations in Ohtahara and West syndromes.

Journal: Epilepsia
Published: January 28, 2016

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Journal: Epilepsia
Published: June 08, 2015

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

Journal: Epilepsia
Published: March 04, 2015

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Journal: Journal of human genetics
Published: October 09, 2014

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Journal: Clinical genetics
Published: February 16, 2014

Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: November 23, 2013

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Journal: Epilepsia
Published: November 06, 2013

De novo SOX11 mutations cause Coffin-Siris syndrome.

De novo SOX11 mutations cause Coffin-Siris syndrome.

Journal: Nature communications
Published: October 08, 2013

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Journal: Neurology
Published: August 13, 2013

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Journal: American journal of human genetics
Published: May 17, 2013

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

Journal: Human mutation
Published: May 16, 2013
Showing 1-12 of 19

Last Updated: 09/26/2026